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
FOXP4	116113	broad.mit.edu	37	6	41557871	41557871	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:41557871G>A	uc003oql.3	+	10	1778	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R	FOXP4_uc003oqm.3_Silent_p.R438R|FOXP4_uc003oqn.3_Silent_p.R427R	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	440					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCGTCGGAGAAGCAGTG	0.692000														36			13		0	0	0.007413	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882734	15882734	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:15882734C>T	uc002yju.1	-	4	540	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R221Q	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	153					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.R153Q(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTCATCCAGTCGAAAGCTGTC	0.478000														32			17		0	0	0.004990	0	0
FCRL5	83416	broad.mit.edu	37	1	157516898	157516898	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:157516898G>A	uc009wsm.3	-	2	300	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	FCRL5_uc001fqu.3_Missense_Mutation_p.R48C|FCRL5_uc010phv.1_Missense_Mutation_p.R48C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.R48C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	48	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.R48C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTAGAAGCGAAATCCCTTG	0.478000														67			27		0	0	0.004656	0	0
ERC1	23085	broad.mit.edu	37	12	1137495	1137495	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:1137495C>T	uc001qjb.2	+	1	667	c.426C>T	c.(424-426)tcC>tcT	p.S142S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.S142S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.S142S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	142					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TACCTCACTCCCTTCGTCAGG	0.483000														46			22		0	0	0.002299	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157474	26157474	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:26157474G>A	uc022bub.1	+	0	372	c.372G>A	c.(370-372)acG>acA	p.T124T	MAGEB18_uc004dbq.2_Silent_p.T124T	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	124	MAGE.						protein binding	p.T124T(2)|p.T124M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTATGAAACGAAAGAGCCAA	0.423000														6			4		0	0	0.000248	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449892	62449892	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:62449892C>T	uc021vii.1	+	0	537	c.537C>T	c.(535-537)gtC>gtT	p.V179V	B3GNT2_uc002sbs.3_Silent_p.V179V	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	179						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TGGTGCGAGTCTTCCTGCTGG	0.527000														25			21		0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:48389680C>T	uc001jez.3	-	0	1312	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A400A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642000														35			17		0	0	0.006122	0	0
SPEN	23013	broad.mit.edu	37	1	16262741	16262741	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:16262741C>T	uc001axk.1	+	10	10210	c.10006C>T	c.(10006-10008)Cgg>Tgg	p.R3336W	SPEN_uc010obp.1_Missense_Mutation_p.R3295W	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3336	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGCCTTCCCGGACCAAGAC	0.602000														13			5		0	0	0.001984	0	0
TTC17	55761	broad.mit.edu	37	11	43418915	43418915	+	Silent	SNP	C	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:43418915C>A	uc001mxi.3	+	6	862	c.792C>A	c.(790-792)gcC>gcA	p.A264A	TTC17_uc001mxh.3_Silent_p.A264A|TTC17_uc010rfj.2_Silent_p.A207A|TTC17_uc001mxj.3_Silent_p.A34A	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	264							binding	p.I263N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAGACATTGCCCTGGTCAACC	0.453000														57			16		2.23348e-06	4.97761e-06	0.004007	1	0
UBA6	55236	broad.mit.edu	37	4	68500030	68500030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:68500030G>A	uc003hdg.4	-	21	1995	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	648					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGGGAAAAGGAACTTTCAAA	0.269000														26			12		0	0	0.001368	0	0
ODZ3	55714	broad.mit.edu	37	4	183664516	183664516	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:183664516C>T	uc003ivd.1	+	17	3648	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	ODZ3_uc003ive.1_Silent_p.F597F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1191					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGGCGATTTCAACTATGTGC	0.468000														35			10		0	0	0.001855	0	0
DDX43	55510	broad.mit.edu	37	6	74110081	74110081	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:74110081G>A	uc003pgw.3	+	2	775	c.431G>A	c.(430-432)gGa>gAa	p.G144E	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	144						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGAATGCGGAATTGGTAAG	0.323000														41			12		0	0	0.002450	0	0
PSG9	5678	broad.mit.edu	37	19	43766253	43766253	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:43766253T>G	uc002owd.4	-	2	567	c.468A>C	c.(466-468)ttA>ttC	p.L156F	PSG9_uc002owe.4_Missense_Mutation_p.L156F|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.L156F	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	156	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCCTGGGGTTTAAGTTGCTGC	0.522000														108			42		0	0	0.002522	0	0
PRKCQ	5588	broad.mit.edu	37	10	6520992	6520992	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:6520992G>A	uc001iji.1	-	10	1498	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	PRKCQ_uc001ijj.2_Missense_Mutation_p.P439S|PRKCQ_uc009xim.2_Missense_Mutation_p.P439S|PRKCQ_uc009xin.2_Missense_Mutation_p.P403S|PRKCQ_uc010qax.2_Missense_Mutation_p.P314S	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	439	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTCAGAAACGGATGCTCCCAG	0.473000														26			8		0	0	0.004482	0	0
KNG1	3827	broad.mit.edu	37	3	186459360	186459360	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:186459360G>A	uc011bsa.2	+	9	1409	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	KNG1_uc003fqr.3_Missense_Mutation_p.R392Q|KNG1_uc021xil.1_Missense_Mutation_p.R356Q	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	392					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CGATCATCACGAATAGGGGAA	0.403000														22			8		0	0	0.003080	0	0
ATRX	546	broad.mit.edu	37	X	76849222	76849222	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:76849222C>T	uc004ecp.4	-	25	6286	c.6054G>A	c.(6052-6054)ggG>ggA	p.G2018G	ATRX_uc004ecq.4_Silent_p.G1980G|ATRX_uc004eco.4_Silent_p.G1803G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2018					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTACCATTTTCCCAGAATGCT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							31			13		0	0	0.002450	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457090	42457090	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:42457090G>A	uc002igt.1	-	17	1877	c.1845C>T	c.(1843-1845)gtC>gtT	p.V615V	ITGA2B_uc002igu.1_Silent_p.V96V	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	615					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.V615V(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATGCAGCACGACAGCAGGGG	0.602000														86			35		0	0	0.003271	0	0
CELA1	1990	broad.mit.edu	37	12	51737633	51737633	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:51737633G>A	uc001ryi.1	-	2	145	c.104C>T	c.(103-105)tCc>tTc	p.S35F		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	35	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GTACTGGAGGGAAATCTAGAT	0.517000														3			4		0	0	0.000248	0	0
MECOM	2122	broad.mit.edu	37	3	168845645	168845645	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:168845645G>A	uc011bpj.1	-	4	1220	c.817C>T	c.(817-819)Cct>Tct	p.P273S	MECOM_uc010hwk.1_Missense_Mutation_p.P108S|MECOM_uc003ffj.3_Missense_Mutation_p.P149S|MECOM_uc003ffi.3_Missense_Mutation_p.P85S|MECOM_uc011bpi.1_Missense_Mutation_p.P85S|MECOM_uc003ffn.3_Missense_Mutation_p.P85S|MECOM_uc003ffk.2_Missense_Mutation_p.P85S|MECOM_uc003ffl.2_Missense_Mutation_p.P245S|MECOM_uc011bpk.1_Missense_Mutation_p.P85S|MECOM_uc010hwn.2_Missense_Mutation_p.P273S|MECOM_uc003ffm.1_Missense_Mutation_p.P149S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAAATCAGGAAAAACTTGG	0.383000														48			16		0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126242082	126242082	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:126242082G>A	uc003ifj.4	+	0	4516	c.4516G>A	c.(4516-4518)Gaa>Aaa	p.E1506K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1506	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGCCAATAGAAACTAGACG	0.398000														39			23		0	0	0.001882	0	0
HOXB5	3215	broad.mit.edu	37	17	46669679	46669679	+	Silent	SNP	G	A	A	rs140096647		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:46669679G>A	uc002inr.3	-	1	761	c.702C>T	c.(700-702)tcC>tcT	p.S234S	HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Non-coding_Transcript|HOXB-AS3_uc021tzj.1_Non-coding_Transcript	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	234						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TCTGGCGCTCGGACAGGCAGA	0.577000														77			29		0	0	0.006320	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528585	77528585	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:77528585G>A	uc022bzh.1	-	0	659	c.659C>T	c.(658-660)tCa>tTa	p.S220L	CYSLTR1_uc004edb.3_Missense_Mutation_p.S220L|CYSLTR1_uc010nma.3_Missense_Mutation_p.S220L|CYSLTR1_uc010nmb.3_Missense_Mutation_p.S220L	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	220					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTTCATTGATTTTTTTAG	0.328000														13			6		0	0	0.001168	0	0
INPP4A	3631	broad.mit.edu	37	2	99149941	99149941	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:99149941C>G	uc002syy.3	+	4	646	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	INPP4A_uc010yvj.1_Missense_Mutation_p.Q85E|INPP4A_uc010yvk.2_Missense_Mutation_p.Q85E|INPP4A_uc002syx.3_Missense_Mutation_p.Q85E|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	85	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAAGCATGCACAGACGGAGAT	0.522000														41			8		0	0	0.008291	0	0
OR2T11	127077	broad.mit.edu	37	1	248790197	248790197	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248790197A>T	uc001ier.1	-	0	233	c.233T>A	c.(232-234)cTc>cAc	p.L78H		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTGCCAGGAGTTTTGGGAC	0.488000														29			19		0	0	0.007413	0	0
CDH8	1006	broad.mit.edu	37	16	61687599	61687599	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:61687599C>T	uc002eog.2	-	11	3268	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTCAAAATTCTGGTCTGAGT	0.502000														22			5		0	0	0.001168	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:53761937G>A	uc002qbi.2	+	0	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	103					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAATCCTGGGGAATTTTTCAC	0.438000														14			7		0	0	0.001984	0	0
DEFB118	117285	broad.mit.edu	37	20	29960770	29960770	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:29960770C>T	uc002wvr.3	+	1	202	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	57					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCTGCATTCCATCCAATGA	0.433000														38			13		0	0	0.001855	0	0
SCAF4	57466	broad.mit.edu	37	21	33076218	33076218	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:33076218G>A	uc002ypd.2	-	3	607	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	SCAF4_uc002ype.2_Missense_Mutation_p.P61S|SCAF4_uc010glu.2_Missense_Mutation_p.P46S|SCAF4_uc002ypf.1_5'Flank|SCAF4_uc002ypg.2_Missense_Mutation_p.P61S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	61	CID.					nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TATAATCCCGGAACCTTGTAT	0.358000														30			8		0	0	0.006214	0	0
IL10RA	3587	broad.mit.edu	37	11	117864120	117864120	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:117864120T>A	uc001prv.3	+	3	609	c.532T>A	c.(532-534)Ttc>Atc	p.F178I	IL10RA_uc010rxl.2_Missense_Mutation_p.F158I|IL10RA_uc010rxm.2_Missense_Mutation_p.F158I|IL10RA_uc010rxn.2_Missense_Mutation_p.F29I|IL10RA_uc001prw.3_Missense_Mutation_p.F29I	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	178						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCCGGGAAACTTCACGGTATG	0.567000														31			13		0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7701005	7701005	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:7701005C>T	uc002giu.1	+	51	8102	c.8088C>T	c.(8086-8088)ttC>ttT	p.F2696F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2696					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGGGATTTCCTGAAGGAGC	0.542000														62			19		0	0	0.008871	0	0
CKAP5	9793	broad.mit.edu	37	11	46771981	46771981	+	Silent	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:46771981T>C	uc001ndi.2	-	41	5673	c.5547A>G	c.(5545-5547)ggA>ggG	p.G1849G	CKAP5_uc009ylg.1_Silent_p.G1742G|CKAP5_uc001ndj.2_Silent_p.G1789G|CKAP5_uc001ndh.1_Silent_p.G778G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1849					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACTCTGCTAGTCCCTGGTGAA	0.418000														24			5		0	0	0.000602	0	0
THRA	7067	broad.mit.edu	37	17	38242991	38242991	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:38242991C>T	uc021twy.1	+	6	1164	c.608C>T	c.(607-609)tCc>tTc	p.S203F	THRA_uc010cwp.1_Missense_Mutation_p.S203F|THRA_uc002htv.3_Missense_Mutation_p.S203F|THRA_uc002htw.3_Missense_Mutation_p.S203F|THRA_uc002htx.3_Missense_Mutation_p.S203F	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	203	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCATTGTCTCCATGCCGGAC	0.592000											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			11		0	0	0.008291	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221985	1221985	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1221985C>T	uc003jbw.4	+	11	1927	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	624					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCACACTGTCCACAGCCTCC	0.602000														35			9		0	0	0.006214	0	0
GRIK4	2900	broad.mit.edu	37	11	120732744	120732744	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:120732744C>T	uc001pxn.2	+	8	1108	c.821C>T	c.(820-822)tCc>tTc	p.S274F	GRIK4_uc009zav.1_Missense_Mutation_p.S274F|GRIK4_uc009zaw.1_Missense_Mutation_p.S274F|GRIK4_uc009zax.1_Missense_Mutation_p.S274F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	274					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCAACCAATCCCATGCTTTC	0.517000														138			47		0	0	0.003214	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:52321203C>T	uc003xqu.4	-	16	3082	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000														5			4		0	0	0.000248	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876576	47876576	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:47876576G>A	uc003tny.2	-	36	5920	c.5886C>T	c.(5884-5886)tcC>tcT	p.S1962S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1962					cell-cell adhesion	integral to membrane		p.F1961S(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCACAGCAGGGAGAAGGACA	0.602000														22			5		0	0	0.000602	0	0
CUX2	23316	broad.mit.edu	37	12	111779714	111779715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:111779714_111779715GG>AA	uc001tsa.2	+	20	3670_3671	c.3516_3517GG>AA	c.(3514-3519)cgggtg>cgAAtg	p.V1173M		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAAGCCCCGGGTGGTGCTGGC	0.663000														35			17		0	0	0.004672	0	0
FAM5B	57795	broad.mit.edu	37	1	177226496	177226496	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:177226496C>T	uc001glf.3	+	3	957	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.I110I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	215						extracellular region		p.I215I(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACCATATCCAGATAGCCA	0.612000														15			6		0	0	0.001984	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681008	106681008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:106681008C>T	uc009yxn.1	-	4	1793	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	GUCY1A2_uc001pjg.1_Missense_Mutation_p.R468K|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R489K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	468					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTATCCATCCTTTTCTTCAA	0.453000														41			11		0	0	0.000978	0	0
PAPSS2	9060	broad.mit.edu	37	10	89468991	89468991	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:89468991C>T	uc001kex.3	+	1	329	c.66C>T	c.(64-66)gcC>gcT	p.A22A	PAPSS2_uc001kew.3_Silent_p.A22A|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	22					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCTATCAGGCCCACCATGTGA	0.418000														27			9		0	0	0.000978	0	0
PIK3CB	5291	broad.mit.edu	37	3	138413734	138413734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:138413734G>A	uc011bmq.2	-	11	1786	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	PIK3CB_uc011bmn.2_Nonsense_Mutation_p.Q108*|PIK3CB_uc011bmo.2_Nonsense_Mutation_p.Q42*|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.Q183*	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	596	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.L595P(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGCCAAATCTGAAGCAGCGCC	0.473000														208			48		0	0	0.003610	0	0
C15orf55	256646	broad.mit.edu	37	15	34647303	34647303	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:34647303G>A	uc010ucc.2	+	6	1826	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	C15orf55_uc010ucd.2_Missense_Mutation_p.E472K|C15orf55_uc001zif.3_Missense_Mutation_p.E454K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	454						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTTAATTGAGGAGCTAGAGCA	0.453000			T	"""BRD3, BRD4"""	lethal midline carcinoma									65			22		0	0	0.002780	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738147	62738147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:62738147C>T	uc011abt.2	-	0	38	c.38G>A	c.(37-39)aGg>aAg	p.R13K		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	13						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GAAGGAGCCCCTGCTGTCAAG	0.622000														63			23		0	0	0.002299	0	0
ME1	4199	broad.mit.edu	37	6	84025057	84025057	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:84025057C>T	uc003pjy.3	-	5	941	c.676G>A	c.(676-678)Gac>Aac	p.D226N	ME1_uc011dzb.2_Missense_Mutation_p.D151N|ME1_uc011dzc.2_Missense_Mutation_p.D60N	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	226					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.D226D(1)|p.L225fs*14(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATGAATTCGTCCAAAAAATCA	0.303000														50			19		0	0	0.002299	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:11506726C>T	uc001qzw.1	-	2	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_uc001qzu.1_Missense_Mutation_p.G104E|PRB1_uc001qzv.1_Missense_Mutation_p.G104E	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	104	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622000														541			53		0	0	0.003610	0	0
PAXIP1	22976	broad.mit.edu	37	7	154745976	154745976	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:154745976T>G	uc022aqg.1	-	15	2853	c.2810A>C	c.(2809-2811)cAg>cCg	p.Q937P	PAXIP1_uc022aqf.1_Missense_Mutation_p.Q937P|PAXIP1_uc022aqh.1_Missense_Mutation_p.Q903P|PAXIP1_uc022aqi.1_Missense_Mutation_p.Q901P	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	937	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AATGAACTTCTGACACCTGAA	0.423000														123			23		0	0	0.005443	0	0
CUTA	51596	broad.mit.edu	37	6	33384428	33384428	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:33384428C>T	uc003oej.1	-	5	827	c.539G>A	c.(538-540)tGa>tAa	p.*180*	CUTA_uc003oen.1_Silent_p.*199*|CUTA_uc003oem.1_Silent_p.*157*|CUTA_uc003oek.1_Silent_p.*157*|CUTA_uc003oel.1_Silent_p.*157*	NM_001014840	NP_057005	O60888	CUTA_HUMAN	Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA.	0					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CAGGGCTCATCATGGCAGGAC	0.532000														49			32		0	0	0.006230	0	0
CAMK2B	816	broad.mit.edu	37	7	44283126	44283126	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:44283126G>A	uc003tkq.2	-	7	625	c.415_splice	c.e7-1	p.P139_splice	CAMK2B_uc003tkp.2_Splice_Site_p.P139_splice|CAMK2B_uc003tkr.2_Splice_Site_p.P139_splice|CAMK2B_uc003tks.2_Splice_Site_p.P139_splice|CAMK2B_uc003tku.2_Splice_Site_p.P139_splice|CAMK2B_uc003tkv.2_Splice_Site_p.P139_splice|CAMK2B_uc003tkt.2_Splice_Site_p.P139_splice|CAMK2B_uc003tkw.2_Splice_Site_p.P139_splice|CAMK2B_uc010kyc.2_Splice_Site_p.P139_splice	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	139	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGTTCTCCGGCTGCAGGGAG	0.567000														21			5		0	0	0.000602	0	0
OR10K2	391107	broad.mit.edu	37	1	158390247	158390247	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:158390247C>T	uc010pii.2	-	0	410	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CACCCCATGTCCCATTAGCAC	0.502000														57			11		0	0	0.000978	0	0
USP53	54532	broad.mit.edu	37	4	120192980	120192980	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:120192980C>T	uc003ics.4	+	14	3031	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S	USP53_uc003icr.4_Silent_p.S655S|USP53_uc003icu.4_Silent_p.S278S|USP53_uc003ict.3_Silent_p.S278S	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	655					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.L655R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAGAAGTTCCCTTGAATCTA	0.383000														29			9		0	0	0.004482	0	0
OPTC	26254	broad.mit.edu	37	1	203467897	203467897	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:203467897G>A	uc001gzu.1	+	3	575	c.459G>A	c.(457-459)cgG>cgA	p.R153R		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	153	LRRNT.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCTTCCTCGGAGGACTGCCT	0.567000														48			13		0	0	0.001368	0	0
MYO16	23026	broad.mit.edu	37	13	109365058	109365058	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:109365058G>A	uc010agk.2	+	2	964	c.342G>A	c.(340-342)tcG>tcA	p.S114S	MYO16_uc001vqt.1_Silent_p.S92S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	92					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGTCTCCTCGGGAGGGTCCC	0.572000														43			20		0	0	0.002780	0	0
PRPF4	9128	broad.mit.edu	37	9	116045468	116045468	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:116045468G>T	uc004bgx.3	+	4	650	c.540G>T	c.(538-540)tgG>tgT	p.W180C	PRPF4_uc004bgy.3_Missense_Mutation_p.W179C	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	180						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CAAGACTATGGATTGCTAATT	0.408000														62			22		9.62636e-23	2.17126e-22	0.002299	1	0
ASPM	259266	broad.mit.edu	37	1	197073963	197073963	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:197073963G>A	uc001gtu.3	-	17	4675	c.4418C>T	c.(4417-4419)tCa>tTa	p.S1473L	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1473					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTATACCATGATTGTATGAT	0.294000														19			7		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	2	90249254	90249254	+	RNA	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:90249254C>T	uc010yts.2	+	39		c.5089C>T								Parts of antibodies, mostly variable regions.																		AGCTCTTCATCTATTATGCAT	0.507000														123			35		0	0	0.005524	0	0
PLD2	5338	broad.mit.edu	37	17	4711613	4711613	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:4711613C>T	uc002fzc.3	+	3	411	c.285C>T	c.(283-285)gaC>gaT	p.D95D	PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Silent_p.D95D	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	95	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTCACGGCGACTTTTCCTGGA	0.552000														120			53		0	0	0.003610	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174266	78174266	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:78174266G>A	uc001xuc.1	-	0	91	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SLIRP_uc001xue.4_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	28					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGGTAGAAGCGGAAAAGTTTC	0.662000														38			13		0	0	0.003163	0	0
PGK1	5230	broad.mit.edu	37	X	77378785	77378785	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:77378785G>C	uc004ecz.4	+	7	1022	c.850G>C	c.(850-852)Gtt>Ctt	p.V284L	PGK1_uc011mqq.2_Missense_Mutation_p.V256L	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	284					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TACCTTGCCTGTTGACTTTGT	0.473000														28			10		0	0	0.000978	0	0
TACC2	10579	broad.mit.edu	37	10	123846584	123846584	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:123846584C>T	uc001lfv.3	+	3	4929	c.4569C>T	c.(4567-4569)ccC>ccT	p.P1523P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P1523P|TACC2_uc010qtv.2_Silent_p.P1523P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1523						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGTCCCACCCACACTGAGGG	0.632000														26			10		0	0	0.001855	0	0
FAM176B	55194	broad.mit.edu	37	1	36788049	36788049	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:36788049C>T	uc001caj.1	-	2	637	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SH3D21_uc010oic.1_Non-coding_Transcript|FAM176B_uc001cai.1_Silent_p.S115S	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	Homo sapiens family with sequence similarity 176, member B (FAM176B), mRNA.	115						integral to membrane				lung(1)|pancreas(1)	2						GCTCCTCCGCCGACGTGAAGA	0.731000														27			4		0	0	0.000248	0	0
ITPR1	3708	broad.mit.edu	37	3	4856869	4856869	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:4856869G>A	uc003bqc.3	+	57	8139	c.7789G>A	c.(7789-7791)Gaa>Aaa	p.E2597K	ITPR1_uc021wsi.1_Missense_Mutation_p.E2564K|ITPR1_uc021wsj.1_Missense_Mutation_p.E2549K|ITPR1_uc011asu.2_Missense_Mutation_p.E575K|ITPR1_uc010hcc.2_Missense_Mutation_p.E332K|ITPR1_uc011asv.2_Missense_Mutation_p.E288K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2612					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAGAAGAAGGAAGAGATCTT	0.493000														25			10		0	0	0.006214	0	0
SMEK1	55671	broad.mit.edu	37	14	91927910	91927910	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:91927910G>A	uc001xzn.3	-	13	3028	c.2206C>T	c.(2206-2208)Ctt>Ttt	p.L736F	SMEK1_uc001xzm.3_Missense_Mutation_p.L723F|SMEK1_uc001xzo.3_Missense_Mutation_p.L723F|SMEK1_uc010atz.3_Missense_Mutation_p.L497F	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	736						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CGTCCAGAAAGGTTTGTTTTC	0.428000														95			36		0	0	0.004878	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985081	157985082	+	Nonsense_Mutation	DNP	GG	AA	AA	rs141519128		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:157985081_157985082GG>AA	uc003wno.3	-	4	607_608	c.486_487CC>TT	c.(484-489)tcccag>tcTTag	p.Q163*	PTPRN2_uc003wnp.3_Nonsense_Mutation_p.Q146*|PTPRN2_uc003wnq.3_Nonsense_Mutation_p.Q163*|PTPRN2_uc003wnr.3_Nonsense_Mutation_p.Q125*|PTPRN2_uc011kwa.2_Nonsense_Mutation_p.Q186*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	163						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTGGGGCCTGGGACAGGGCCT	0.693000														38			50		0	0	0.004672	0	0
WDR82	80335	broad.mit.edu	37	3	52301026	52301026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:52301026G>A	uc003ddl.2	-	2	550	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	WDR82_uc003ddk.2_Missense_Mutation_p.R15C	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	90					histone H3-K4 methylation	PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GACAAGTAACGAATAGTATCT	0.308000														104			44		0	0	0.003610	0	0
EPHA4	2043	broad.mit.edu	37	2	222429093	222429093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:222429093C>T	uc002vmq.3	-	2	223	c.181G>A	c.(181-183)Gat>Aat	p.D61N	EPHA4_uc002vmr.2_Missense_Mutation_p.D61N|EPHA4_uc010zlm.1_Missense_Mutation_p.D2N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	61						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTTTTTTCATCCATGATACTC	0.428000														56			29		0	0	0.002445	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585792	42585792	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:42585792C>T	uc003xpi.1	+	3	433	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	102					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGATCCATTCCATTAAAGTT	0.358000														31			11		0	0	0.001855	0	0
UTP18	51096	broad.mit.edu	37	17	49338083	49338083	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:49338083C>T	uc002its.3	+	0	187	c.138C>T	c.(136-138)tcC>tcT	p.S46S	MBTD1_uc002itr.4_5'Flank|MBTD1_uc002itq.4_5'Flank	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	46					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CCCCTTCATCCCAGCGGAAAc	0.731000														6			3		0	0	0.004672	0	0
MYOM2	9172	broad.mit.edu	37	8	2017587	2017587	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:2017587C>T	uc003wpx.4	+	7	902	c.764C>T	c.(763-765)cCa>cTa	p.P255L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	255					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GACGAGGAACCATTCCGTTCG	0.507000														83			31		0	0	0.004289	0	0
ENPP5	59084	broad.mit.edu	37	6	46135775	46135775	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:46135775G>A	uc003oxz.1	-	1	433	c.225C>T	c.(223-225)aaC>aaT	p.N75N	ENPP5_uc010jzc.1_Silent_p.N75N|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Silent_p.N75N	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	75						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAGTATAATGGTTAGGGTAGG	0.343000														20			17		0	0	0.004007	0	0
BSN	8927	broad.mit.edu	37	3	49689186	49689186	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:49689186C>T	uc003cxe.4	+	4	2311	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	733					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)		CAGCATGCGGCCTTTGCTGCA	0.657000														25			11		0	0	0.008291	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147623	6147623	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:6147623G>A	uc002mef.1	+	2	461	c.234G>A	c.(232-234)tgG>tgA	p.W78*	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Nonsense_Mutation_p.W78*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.W78*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.W28*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.W78*	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	78					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAAAAAGTGGGAAATTCTGA	0.438000														89			42		0	0	0.003610	0	0
HBG1	3047	broad.mit.edu	37	11	5275577	5275577	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:5275577G>A	uc001mai.1	-	1	697	c.260C>T	c.(259-261)gCc>gTc	p.A87V	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.A87V	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	87					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCAGCTGGGCAAAGGTGCC	0.522000														100			19		0	0	0.002780	0	0
DSCAM	1826	broad.mit.edu	37	21	41550888	41550888	+	Silent	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:41550888G>T	uc002yyq.1	-	14	3365	c.2913C>A	c.(2911-2913)ccC>ccA	p.P971P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	971	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCGTTGCTGGGCTCGCTCT	0.602000														30			15		2.32078e-09	5.21363e-09	0.003163	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260907	30260907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:30260907G>A	uc004dcb.3	+	0	851	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	219	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAAGAGGAAATCTGGGA	0.498000														54			21		0	0	0.002299	0	0
PRB2	653247	broad.mit.edu	37	12	11546638	11546638	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:11546638C>T	uc010shk.1	-	2	409	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G125V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.612000														426			11		0	0	0.004007	0	0
SF3A2	8175	broad.mit.edu	37	19	2247809	2247809	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:2247809C>T	uc002lvg.3	+	8	781	c.659C>T	c.(658-660)cCa>cTa	p.P220L	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	220	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGGCTCCACCCAGCCTC	0.662000														48			11		0	0	0.001368	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621198	99621198	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99621198C>T	uc003usk.1	+	1	288	c.69C>T	c.(67-69)atC>atT	p.I23I	ZKSCAN1_uc003usj.3_Silent_p.I22I|ZKSCAN1_uc003usl.1_5'UTR|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	23					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGATGGTATCGTAATAGTGA	0.547000														59			17		0	0	0.004990	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:187455191C>T	uc003izd.1	-	1	723	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	235					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000														73			31		0	0	0.002836	0	0
EDNRA	1909	broad.mit.edu	37	4	148441023	148441023	+	Silent	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:148441023T>G	uc003iky.3	+	2	971	c.441T>G	c.(439-441)ccT>ccG	p.P147P	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	147					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GGCGCTGGCCTTTTGATCACA	0.512000														91			37		0	0	0.006999	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332199	134332199	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:134332199C>T	uc003lag.3	+	2	575	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	163					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.I163I(2)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGGGCATCCGGGTGAGTG	0.562000														35			15		0	0	0.006122	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163813	26163813	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:26163813C>T	uc001uqk.3	+	23	2329	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	ATP8A2_uc010tdi.2_Silent_p.I689I|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.I239I	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	689					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGCCCTTATCCTATTGAAGG	0.368000														58			17		0	0	0.008871	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573095	44573095	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:44573095G>A	uc003tlb.3	-	7	2400	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	NPC1L1_uc011kbw.2_Missense_Mutation_p.L782F|NPC1L1_uc003tlc.3_Missense_Mutation_p.L782F|NPC1L1_uc003tld.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	782	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGAAGTCAAGGATCACTGCA	0.642000														43			13		0	0	0.002450	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541700	96541700	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:96541700G>A	uc010qnz.2	+	4	765	c.765G>A	c.(763-765)atG>atA	p.M255I	CYP2C19_uc009xus.1_Missense_Mutation_p.M120I|CYP2C19_uc010qny.2_Missense_Mutation_p.M233I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	255					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAGAATCGATGGACATCAACA	0.353000														45			10		0	0	0.008291	0	0
CCL13	6357	broad.mit.edu	37	17	32684565	32684565	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:32684565A>C	uc002hic.3	+	1	223	c.148A>C	c.(148-150)Agc>Cgc	p.S50R		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	50					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GAGGCTGAAGAGCTATGTGAT	0.483000														108			41		0	0	0.003610	0	0
NPR1	4881	broad.mit.edu	37	1	153661937	153661937	+	Silent	SNP	C	T	T	rs139666221	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:153661937C>T	uc001fcs.4	+	17	3118	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	NPR1_uc010pdz.2_Silent_p.T645T|NPR1_uc010pea.2_Silent_p.T377T	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	899	Guanylate cyclase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGTGGTGACCCTGCTCAATG	0.537000														77			22		0	0	0.002780	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658688	24658688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:24658688C>T	uc010tob.1	-	9	3093	c.2459G>A	c.(2458-2460)gGc>gAc	p.G820D	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc001wmz.2_5'UTR|TM9SF1_uc001wnb.1_Missense_Mutation_p.G585D|TM9SF1_uc010toa.1_Missense_Mutation_p.G498D	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	585					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGAGATGGTGCCCAGCATGAG	0.458000														40			19		0	0	0.001523	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239386	5239386	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:5239386C>T	uc003jdl.3	+	15	2416	c.2278_splice	c.e15+1	p.Q760_splice	ADAMTS16_uc003jdk.1_Splice_Site_p.Q760_splice|ADAMTS16_uc010itk.1_Splice_Site	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	760	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCACACCAACCGTGAGTACT	0.512000														55			29		0	0	0.001786	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826465	43826465	+	Missense_Mutation	SNP	G	A	A	rs150670741		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:43826465G>A	uc010skx.2	-	19	2870	c.2870C>T	c.(2869-2871)aCc>aTc	p.T957I	ADAMTS20_uc001rno.1_Missense_Mutation_p.T111I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.T111I	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	957	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTTCTTGGGTAGGAGGTTT	0.398000														37			18		0	0	0.006122	0	0
CPXM2	119587	broad.mit.edu	37	10	125521433	125521433	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:125521433C>T	uc001lhk.1	-	10	2057	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	578					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGCCCTCCTCCTTCTGGAAG	0.667000														18			5		0	0	0.000602	0	0
LRTM1	57408	broad.mit.edu	37	3	54958664	54958664	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:54958664C>T	uc003dhl.3	-	1	720	c.586G>A	c.(586-588)Gag>Aag	p.E196K	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	196	LRRCT.					integral to membrane		p.E196K(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACAAATTTCTCCAGCCAGAGT	0.458000														41			19		0	0	0.008871	0	0
GPR101	83550	broad.mit.edu	37	X	136113428	136113428	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:136113428G>A	uc011mwh.2	-	0	406	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	136						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGGAGAGAGGGTGGATGATG	0.597000														18			4		0	0	0.000602	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142008598C>T	uc003vxf.3	+	1	120	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGCTGTTTCCCAGACTCCA	0.453000														12			29		0	0	0.005443	0	0
DDI1	414301	broad.mit.edu	37	11	103908505	103908505	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:103908505T>C	uc001phr.2	+	0	1198	c.955T>C	c.(955-957)Tcc>Ccc	p.S319P	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	319					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGCTCTTTCTCCATACTTGA	0.453000														65			20		0	0	0.007413	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849442	106849442	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:106849442G>A	uc009yxn.1	-	2	780	c.390C>T	c.(388-390)ttC>ttT	p.F130F	GUCY1A2_uc001pjg.1_Silent_p.F130F|GUCY1A2_uc010rvo.1_Silent_p.F130F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	130					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGATATTGTGGAAATTCTTTT	0.368000														18			8		0	0	0.006214	0	0
OR2T12	127064	broad.mit.edu	37	1	248458774	248458774	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248458774G>A	uc010pzj.2	-	0	107	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502000														50			20		0	0	0.008871	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315203	99315203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99315203C>T	uc003uru.3	-	4	481	c.378G>A	c.(376-378)tgG>tgA	p.W126*	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	126					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTATTCTCTTCCATTCTTCAT	0.383000														15			11		0	0	0.001855	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800327	74800327	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:74800327C>T	uc010rro.2	-	0	432	c.432G>A	c.(430-432)caG>caA	p.Q144Q		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TAGCATTGGTCTGTGGGTTCA	0.542000														62			14		0	0	0.004007	0	0
ITGA2	3673	broad.mit.edu	37	5	52374689	52374689	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:52374689C>T	uc003joy.3	+	23	3056	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.F895F|ITGA2_uc011cqd.2_Intron|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	971					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTCCAAAATTCATCTTCTCCC	0.373000														27			4		0	0	0.000248	0	0
NR4A1	3164	broad.mit.edu	37	12	52450362	52450362	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:52450362T>G	uc001rzs.3	+	4	1410	c.1091T>G	c.(1090-1092)cTc>cGc	p.L364R	NR4A1_uc010sno.2_Missense_Mutation_p.L377R|NR4A1_uc001rzt.3_Missense_Mutation_p.L364R|NR4A1_uc009zmc.3_Missense_Mutation_p.S7A	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	364					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGCCAATCTCCTCACTTCC	0.627000														52			12		0	0	0.001368	0	0
LDB2	9079	broad.mit.edu	37	4	16510269	16510269	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:16510269C>T	uc003goz.3	-	6	1096	c.780G>A	c.(778-780)agG>agA	p.R260R	LDB2_uc003gpa.3_Silent_p.R260R|LDB2_uc011bxh.2_Silent_p.R232R|LDB2_uc003gpb.3_Silent_p.R260R|LDB2_uc010iee.3_Silent_p.R260R|LDB2_uc011bxi.2_Silent_p.R136R	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	260							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGAATTTTTCCTTTTTCTCC	0.488000														30			9		0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21225588	21225588	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:21225588G>A	uc002red.3	-	28	12834	c.12706C>T	c.(12706-12708)Cat>Tat	p.H4236Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4236					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)	GAACCATTATGGACTTTCGAA	0.408000														295			113		0	0	0.003610	0	0
ATRN	8455	broad.mit.edu	37	20	3556597	3556597	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:3556597T>G	uc002wim.2	+	13	2304	c.2214_splice	c.e13+2	p.Q738_splice	ATRN_uc002wil.2_Splice_Site_p.Q738_splice|ATRN_uc021vzz.1_Splice_Site_p.Q622_splice	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	738	PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAAGGCCAGGTCAGAGGCTGT	0.433000														5			7		0	0	0.001984	0	0
C8B	732	broad.mit.edu	37	1	57420467	57420467	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:57420467C>T	uc001cyp.3	-	3	492	c.425G>A	c.(424-426)gGg>gAg	p.G142E	C8B_uc010oon.2_Missense_Mutation_p.G80E|C8B_uc010ooo.2_Missense_Mutation_p.G90E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	142	LDL-receptor class A.				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						GTCATTGTCCCCATTGCAAAG	0.423000														46			14		0	0	0.003163	0	0
OLFM4	10562	broad.mit.edu	37	13	53603031	53603031	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:53603031G>A	uc001vhl.3	+	0	156	c.60G>A	c.(58-60)ggG>ggA	p.G20G	OLFM4_uc001vhk.2_Silent_p.G20G	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	20					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAGCTGCAGGGGATTTGGGGG	0.607000														95			33		0	0	0.003755	0	0
PTPRB	5787	broad.mit.edu	37	12	70928384	70928384	+	Silent	SNP	C	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:70928384C>G	uc001swb.4	-	28	5628	c.5598G>C	c.(5596-5598)acG>acC	p.T1866T	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.T1776T|PTPRB_uc010stp.2_Silent_p.T1776T|PTPRB_uc001swc.4_Silent_p.T2084T|PTPRB_uc001swa.4_Silent_p.T1996T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1866	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGGCCACACCGTATAGTGAA	0.517000														11			4		0	0	0.001168	0	0
NOX5	79400	broad.mit.edu	37	15	69328262	69328262	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:69328262A>G	uc002ars.2	+	6	1215	c.1174A>G	c.(1174-1176)Agt>Ggt	p.S392G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S346G|NOX5_uc002arp.2_Missense_Mutation_p.S374G|NOX5_uc010bid.2_Missense_Mutation_p.S357G|NOX5_uc010bie.2_Missense_Mutation_p.S192G|NOX5_uc002arr.2_Missense_Mutation_p.S364G|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	392	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCCGCAGGAGTGGCCACTT	0.577000														34			13		0	0	0.001855	0	0
PTGS2	5743	broad.mit.edu	37	1	186647412	186647412	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:186647412C>T	uc001gsb.3	-	3	575	c.438G>A	c.(436-438)ccG>ccA	p.P146P	PTGS2_uc009wyo.3_Missense_Mutation_p.R30Q	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	146					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CCAAGGGAGTCGGGCAATCAT	0.438000														50			18		0	0	0.006122	0	0
VPS11	55823	broad.mit.edu	37	11	118948999	118949000	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:118948999_118949000CC>TT	uc010ryx.2	+	11	1914_1915	c.1872_1873CC>TT	c.(1870-1875)ctcctt>ctTTtt	p.L625F	VPS11_uc010ryy.2_Missense_Mutation_p.L473F	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	627					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACGACACACTCCTTGAGCTGCG	0.564000														99			30		0	0	0.004672	0	0
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:75444659G>A	uc001sxg.1	-	2	1670	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_uc009zry.3_Nonsense_Mutation_p.R376*|KCNC2_uc001sxe.3_Nonsense_Mutation_p.R376*|KCNC2_uc001sxf.3_Nonsense_Mutation_p.R376*|KCNC2_uc010stw.1_Nonsense_Mutation_p.R376*	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTACTAGCTCGAAGAGTATGT	0.453000														22			7		0	0	0.003080	0	0
DPYD	1806	broad.mit.edu	37	1	98165049	98165049	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:98165049C>T	uc001drv.3	-	5	675	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	180					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GACATTTTTTCTGGGGGAGGC	0.423000														82			17		0	0	0.006122	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171193	150171193	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:150171193G>A	uc003whj.3	+	3	1106	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	259						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGCGGTGCTGGAAAAAGTGCA	0.567000														52			41		0	0	0.008740	0	0
VPS13A	23230	broad.mit.edu	37	9	79835234	79835234	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:79835234G>T	uc004akr.3	+	11	1184	c.924G>T	c.(922-924)atG>atT	p.M308I	VPS13A_uc004akp.4_Missense_Mutation_p.M308I|VPS13A_uc004akq.4_Missense_Mutation_p.M308I|VPS13A_uc004aks.3_Missense_Mutation_p.M308I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	308					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGATATGATGGCACAAAATC	0.318000														20			9		2.17888e-05	4.82712e-05	0.006214	1	0
TKTL2	84076	broad.mit.edu	37	4	164394100	164394100	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:164394100C>T	uc003iqp.4	-	0	948	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	263						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGCTTTCCATGCCAATTT	0.418000														75			32		0	0	0.003271	0	0
LSM1	27257	broad.mit.edu	37	8	38021196	38021196	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:38021196C>G	uc003xkw.3	-	3	804	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	LSM1_uc003xkx.3_Non-coding_Transcript|LSM1_uc022atz.1_Non-coding_Transcript	NM_014462	NP_055277	O15116	LSM1_HUMAN	Homo sapiens LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM1), transcript variant 1, mRNA.	132					RNA splicing, via transesterification reactions|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing	cytosol|nucleus|ribonucleoprotein complex	RNA binding|protein binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					GATTAGTACTCATCAAGAGTA	0.507000														24			7		0	0	0.001984	0	0
TEX13A	56157	broad.mit.edu	37	X	104464777	104464777	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:104464777G>A	uc004ema.3	-	1	417	c.305C>T	c.(304-306)tCa>tTa	p.S102L	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.S102L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	102						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTGTGCGGCTGATTTGTGCAG	0.637000														12			6		0	0	0.001168	0	0
ALG13	79868	broad.mit.edu	37	X	110971527	110971527	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:110971527G>A	uc011msy.2	+	18	2463	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ALG13_uc011msx.2_Missense_Mutation_p.E684K|ALG13_uc011msz.2_Missense_Mutation_p.E710K|ALG13_uc011mta.2_Missense_Mutation_p.E684K|ALG13_uc011mtb.2_Missense_Mutation_p.E684K	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	788					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TGGCCAGAGTGAAAATGGTGA	0.428000														24			5		0	0	0.000602	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762578	130762578	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:130762578C>T	uc003qcb.3	+	1	3389	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	TMEM200A_uc003qca.3_Silent_p.S337S|TMEM200A_uc010kfh.3_Silent_p.S337S|TMEM200A_uc010kfi.3_Silent_p.S337S|TMEM200A_uc021zfg.1_Silent_p.S337S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	337						integral to membrane		p.S337Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAGTGAATCCTTCCAGCCCG	0.483000														21			13		0	0	0.003163	0	0
COL11A2	1302	broad.mit.edu	37	6	33136349	33136349	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:33136349C>T	uc003ocx.1	-	54	4135	c.3907_splice	c.e54-1	p.G1303_splice	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Splice_Site_p.G1217_splice|COL11A2_uc003ocz.1_Splice_Site_p.G1196_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1303	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGATCCCTAGGGAGAG	0.617000														11			14		0	0	0.003163	0	0
LRP1	4035	broad.mit.edu	37	12	57600328	57600328	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:57600328C>T	uc001snd.3	+	75	12129	c.11663C>T	c.(11662-11664)tCg>tTg	p.S3888L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3888					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCCATTCGGCTTACGAG	0.587000														28			14		0	0	0.004007	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621226	41621226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:41621226C>T	uc003gvz.4	+	5	644	c.227C>T	c.(226-228)tCc>tTc	p.S76F	LIMCH1_uc003gvt.1_Missense_Mutation_p.S76F|LIMCH1_uc003gwe.4_Missense_Mutation_p.S235F|LIMCH1_uc003gvu.4_Missense_Mutation_p.S235F|LIMCH1_uc003gvv.4_Missense_Mutation_p.S235F|LIMCH1_uc003gvw.4_Missense_Mutation_p.S235F|LIMCH1_uc003gvx.4_Missense_Mutation_p.S235F|LIMCH1_uc003gvy.4_Missense_Mutation_p.S76F|LIMCH1_uc003gwa.4_Missense_Mutation_p.S76F|LIMCH1_uc011byu.2_Missense_Mutation_p.S81F|LIMCH1_uc003gwc.4_Missense_Mutation_p.S81F|LIMCH1_uc003gwd.4_Missense_Mutation_p.S81F|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.S83F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	235	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GACTCTGAATCCGACTTGCCT	0.507000														170			52		0	0	0.003610	0	0
GEN1	348654	broad.mit.edu	37	2	17962782	17962782	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:17962782T>C	uc002rct.2	+	13	2376	c.2303T>C	c.(2302-2304)gTt>gCt	p.V768A	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.V768A|GEN1_uc002rcu.2_Missense_Mutation_p.V768A	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	768					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGCAATGTTAGACCACCA	0.368000								Homologous recombination						28			10		0	0	0.008291	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:16875863C>T	uc002neu.4	+	9	2692	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_uc002net.4_Missense_Mutation_p.S622F|NWD1_uc002nev.4_Missense_Mutation_p.S551F|NWD1_uc021uqg.1_Missense_Mutation_p.S622F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000														31			14		0	0	0.006122	0	0
CC2D2B	387707	broad.mit.edu	37	10	97775968	97775968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:97775968G>A	uc010qop.2	+	6	651	c.419G>A	c.(418-420)aGt>aAt	p.S140N	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.S140N	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	140										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CACTGCATCAGTTTAGCTATC	0.423000														15			5		0	0	0.000602	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890456	23890456	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:23890456C>G	uc001ywj.4	-	0	2538	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGGGGTCTCTGAGGCAGCA	0.567000														61			12		0	0	0.001368	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500709	27500709	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:27500709G>A	uc002rjl.1	+	3	619	c.201G>A	c.(199-201)ggG>ggA	p.G67G	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Silent_p.G67G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	67	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAATCCAGGGAATGCTCAAG	0.502000														31			22		0	0	0.001523	0	0
HIPK1	204851	broad.mit.edu	37	1	114510528	114510528	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:114510528T>C	uc001eem.3	+	11	2683	c.2522T>C	c.(2521-2523)cTc>cCc	p.L841P	HIPK1_uc001eel.3_Missense_Mutation_p.L841P|HIPK1_uc001een.3_Missense_Mutation_p.L841P|HIPK1_uc001eeo.3_Missense_Mutation_p.L467P|HIPK1_uc001eep.3_Missense_Mutation_p.L447P|HIPK1_uc001eeq.3_Missense_Mutation_p.L133P	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGTTCCCTCCCTTCGAAG	0.473000														38			20		0	0	0.008871	0	0
MUC5B	727897	broad.mit.edu	37	11	1261051	1261051	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:1261051C>T	uc001lta.3	+	27	3665	c.3606C>T	c.(3604-3606)ccC>ccT	p.P1202P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1202	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTGCCCACCCAGCCAGCCCT	0.612000														14			5		0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	3611552	3611552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:3611552C>T	uc022aqr.1	-	5	1221	c.831G>A	c.(829-831)atG>atA	p.M277I		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	277	CUB 2.					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)		AGGGGAGGTTCATGCCAGTTA	0.443000														21			7		0	0	0.003080	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609396	84609396	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:84609396C>T	uc004amn.3	+	3	4058	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1337						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GCAAATCTTCCCCAACCTTGA	0.478000														17			3		0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	2944783	2944783	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:2944783G>A	uc022aqr.1	-	48	7700	c.7310C>T	c.(7309-7311)cCc>cTc	p.P2437L	CSMD1_uc011kwj.2_Missense_Mutation_p.P1767L|CSMD1_uc010lrg.3_Missense_Mutation_p.P506L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2438	Sushi 14.					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)		ATTCTTCAGGGGGTGGGTCAA	0.493000														47			15		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9089115	9089115	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9089115G>A	uc002mkp.3	-	0	2904	c.2700C>T	c.(2698-2700)acC>acT	p.T900T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	900	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGTCCATGGTGGGGAATA	0.512000														15			7		0	0	0.001984	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025210	172025210	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:172025210C>T	uc003fhy.3	+	9	1291	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	FNDC3B_uc003fhz.4_Silent_p.T373T|FNDC3B_uc003fia.3_Silent_p.T304T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	373	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTAGCTTCACCACCCACAGCT	0.512000														37			24		0	0	0.002780	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045075	55045075	+	RNA	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:55045075G>A	uc010yfa.1	+	2		c.301G>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AAACAACTGGGACCCGAAGCC	0.527000														17			3		0	0	0.004672	0	0
CT47B1	643311	broad.mit.edu	37	X	120009239	120009239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:120009239C>T	uc011muc.2	-	0	541	c.286G>A	c.(286-288)Gag>Aag	p.E96K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	96	Poly-Glu.							p.E95D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tcttcctcctcctcctcttcc	0.697000														13			6		0	0	0.001168	0	0
MPEG1	219972	broad.mit.edu	37	11	58979353	58979353	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:58979353T>A	uc001nnu.4	-	0	1142	c.986A>T	c.(985-987)aAg>aTg	p.K329M		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	329	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTTGACACCTTCTTCACCAG	0.522000														33			14		0	0	0.002450	0	0
APLP1	333	broad.mit.edu	37	19	36370283	36370283	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:36370283C>T	uc002oce.3	+	16	2031	c.1893C>T	c.(1891-1893)cgC>cgT	p.R631R	APLP1_uc010xsz.2_Silent_p.R592R|APLP1_uc002ocf.3_Silent_p.R632R|APLP1_uc002ocg.3_Silent_p.R535R|APLP1_uc010xta.2_Silent_p.R625R	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	631					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCTCCGCGAACTGCAGC	0.672000														55			17		0	0	0.008871	0	0
EPHA4	2043	broad.mit.edu	37	2	222307622	222307622	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:222307622G>A	uc002vmq.3	-	10	2043	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	EPHA4_uc002vmr.2_Silent_p.F667F|EPHA4_uc010zlm.1_Silent_p.F608F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCTCACTCAGGAAGTCTCTCC	0.498000														54			24		0	0	0.004656	0	0
MGAM	8972	broad.mit.edu	37	7	141799434	141799434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:141799434G>A	uc003vwy.3	+	43	5137	c.5083G>A	c.(5083-5085)Gga>Aga	p.G1695R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1695	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAATGCAAGAGGAGAGTGGAA	0.532000														80			22		0	0	0.004656	0	0
STAG3	10734	broad.mit.edu	37	7	99799858	99799858	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99799858G>A	uc003utx.1	+	23	2613	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	STAG3_uc011kjk.1_Missense_Mutation_p.D762N|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.D44N	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	820					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGGCCGTGATTTCCTTAG	0.478000														78			69		0	0	0.003610	0	0
IGSF21	84966	broad.mit.edu	37	1	18692048	18692048	+	Missense_Mutation	SNP	G	A	A	rs149943630		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:18692048G>A	uc001bau.2	+	5	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H	IGSF21_uc001bav.2_Missense_Mutation_p.R112H	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	291						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632000														52			16		0	0	0.004990	0	0
DHTKD1	55526	broad.mit.edu	37	10	12149924	12149924	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:12149924C>T	uc001ild.4	+	11	2163	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	688					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCAAGTGGCTCCTACAAAGCG	0.552000														190			60		0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135488088	135488088	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:135488088G>A	uc004ezu.1	+	22	9183	c.8892G>A	c.(8890-8892)agG>agA	p.R2964R	GPR112_uc010nsb.1_Silent_p.R2759R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2964					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2964G(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCCATGAGGAACTTTTTCT	0.453000														90			28		0	0	0.008361	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000														27			7		0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100675084	100675084	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:100675084C>T	uc003uxp.1	+	2	440	c.387C>T	c.(385-387)ttC>ttT	p.F129F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	129	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACACTTTTCCCCAGTTCTA	0.478000														57			31		0	0	0.002836	0	0
GLCE	26035	broad.mit.edu	37	15	69561424	69561424	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:69561424C>T	uc002ary.1	+	4	1923	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	565					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCCGTCACTTCATGCTTGGCA	0.502000														68			38		0	0	0.006230	0	0
BTBD11	121551	broad.mit.edu	37	12	108008928	108008928	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:108008928C>T	uc001tmk.1	+	6	2511	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	BTBD11_uc009zut.1_Missense_Mutation_p.P664S|BTBD11_uc001tmj.3_Missense_Mutation_p.P664S|BTBD11_uc001tml.1_Missense_Mutation_p.P201S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	664						integral to membrane	DNA binding	p.P664T(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGACATATTCCTGTAGTTCA	0.433000														18			10		0	0	0.008291	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319580	21319580	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:21319580C>T	uc021tss.1	+	2	1296	c.926C>T	c.(925-927)aCc>aTc	p.T309I	KCNJ18_uc002gyv.1_Missense_Mutation_p.T309I|KCNJ18_uc021tst.1_Missense_Mutation_p.T309I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	309						integral to membrane	inward rectifier potassium channel activity										ACAGCCATGACCACCCAGGCC	0.607000														95			10		0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455963	110455963	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:110455963C>T	uc003yne.3	+	36	4727	c.4623C>T	c.(4621-4623)ccC>ccT	p.P1541P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1541					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACAGAACCCCTGTGCAGCC	0.423000										HNSCC(38;0.096)				22			4		0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79417986	79417986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:79417986G>A	uc003hlb.2	+	59	9426	c.8986G>A	c.(8986-8988)Gat>Aat	p.D2996N	FRAS1_uc003hlc.1_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2991	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATATCCACGATGACTCCAT	0.438000														91			36		0	0	0.002222	0	0
C11orf41	25758	broad.mit.edu	37	11	33569401	33569402	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:33569401_33569402CC>TG	uc021qfs.1	+	2	2710_2711	c.2586_2587CC>TG	c.(2584-2589)ttccac>ttTGac	p.H863D	C11orf41_uc001mun.1_Missense_Mutation_p.H869D	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	863						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GGAAGGCTTTCCACCAGAACGA	0.465000														15			4		0	0	0.004672	0	0
LRCH1	23143	broad.mit.edu	37	13	47224445	47224445	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:47224445C>T	uc001vbk.3	+	1	653	c.417C>T	c.(415-417)atC>atT	p.I139I	LRCH1_uc010acp.2_Silent_p.I139I|LRCH1_uc001vbj.3_Silent_p.I139I|LRCH1_uc001vbl.4_Silent_p.I139I	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	139										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTGAGGCCATCGTTAATCTGC	0.343000														17			6		0	0	0.001168	0	0
ADAM30	11085	broad.mit.edu	37	1	120437263	120437263	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:120437263G>A	uc001eij.3	-	0	1885	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	566	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAAATCAGGGATGGTTTC	0.388000														337			136		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196876105	196876105	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:196876105G>A	uc001gtp.3	+	3	691	c.554G>A	c.(553-555)gGa>gAa	p.G185E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G184E|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	545	Sushi 3.				complement activation, alternative pathway	extracellular space		p.I184V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGCAGTTATGGAAACACCACA	0.378000														13			6		0	0	0.001984	0	0
ABCB1	5243	broad.mit.edu	37	7	87179797	87179797	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:87179797C>T	uc003uiz.2	-	11	1704	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCB1_uc011khc.2_Missense_Mutation_p.R340Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	404	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACTTCTTTTCGAGATGGGTA	0.323000														32			9		0	0	0.004482	0	0
MOSPD2	158747	broad.mit.edu	37	X	14913434	14913434	+	Silent	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:14913434T>A	uc004cwi.3	+	3	364	c.240T>A	c.(238-240)ctT>ctA	p.L80L	MOSPD2_uc004cwj.3_Silent_p.L17L	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	80						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TTTTAGACCTTAATGAATCCT	0.294000														131			49		0	0	0.003610	0	0
MIR323B	574410	broad.mit.edu	37	14	101522564	101522564	+	RNA	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:101522564G>A	uc021sdn.1	+	0		c.9G>A								Homo sapiens microRNA 323b (MIR323B), microRNA.																		CATGGTACTCGGAGGGAGGTT	0.552000														20			8		0	0	0.004482	0	0
TMLHE	55217	broad.mit.edu	37	X	154754275	154754275	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:154754275G>A	uc004fnn.3	-	2	371	c.200C>T	c.(199-201)aCc>aTc	p.T67I	TMLHE_uc004fnp.4_Missense_Mutation_p.T67I	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.T67T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGCATCACGGTATTAGCATA	0.428000														51			26		0	0	0.006320	0	0
CD180	4064	broad.mit.edu	37	5	66480183	66480183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:66480183G>A	uc003juy.2	-	2	636	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	163					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAACTTAATGGAGGAAATATG	0.398000														64			15		0	0	0.002450	0	0
RIMS2	9699	broad.mit.edu	37	8	105263284	105263285	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:105263284_105263285GG>AA	uc003yls.3	+	26	4019_4020	c.3778_3779GG>AA	c.(3778-3780)gga>AAa	p.G1260K	RIMS2_uc003ylp.3_Missense_Mutation_p.G1242K|RIMS2_uc003ylw.2_Missense_Mutation_p.G1249K|RIMS2_uc003ylq.3_Missense_Mutation_p.G1056K|RIMS2_uc003ylr.3_Missense_Mutation_p.G1081K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1304	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAGATAACGGAGTCTGCATA	0.416000										HNSCC(12;0.0054)				33			10		0	0	0.004672	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223703	134223703	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:134223703C>T	uc003lac.1	+	1	1080	c.422C>T	c.(421-423)cCt>cTt	p.P141L	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	141					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACACTTCCCTGACAGAGAA	0.562000														34			7		0	0	0.003080	0	0
HOXA3	3200	broad.mit.edu	37	7	27147572	27147572	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:27147572C>T	uc011jzl.2	-	2	1494	c.1294G>A	c.(1294-1296)Gga>Aga	p.G432R	HOXA3_uc003syk.3_Missense_Mutation_p.G432R	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	432					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G432*(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGAATTCTTCCCTGAGAAGGA	0.662000														52			22		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9085264	9085264	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9085264G>A	uc002mkp.3	-	0	6755	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2184	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCAGGGATATTGTCCT	0.448000														18			9		0	0	0.004482	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005013	41005013	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:41005013C>T	uc003jmj.4	-	35	4364	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E847K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1292							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGATTGGTTCCTTCATGAGC	0.493000														17			3		0	0	0.000248	0	0
RSG1	79363	broad.mit.edu	37	1	16559447	16559447	+	Missense_Mutation	SNP	G	A	A	rs141168630		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:16559447G>A	uc001ayd.3	-	2	753	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	111	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AACTCAAAACGAAACATGACG	0.592000														76			24		0	0	0.006320	0	0
TG	7038	broad.mit.edu	37	8	133920538	133920538	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:133920538G>A	uc003ytw.3	+	17	3996	c.3955G>A	c.(3955-3957)Gtt>Att	p.V1319I	TG_uc010mdw.3_Missense_Mutation_p.V78I	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1319					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTTTCCAGGTTTTCATATT	0.582000														29			13		0	0	0.001368	0	0
LCE3B	353143	broad.mit.edu	37	1	152586476	152586476	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152586476C>T	uc010pds.2	+	0	190	c.190C>T	c.(190-192)Cac>Tac	p.H64Y		NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	Homo sapiens late cornified envelope 3B (LCE3B), mRNA.	64	Cys-rich.				keratinization			p.H64N(2)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTGCAGGTCCCACCGATGCCG	0.662000														17			24		0	0	0.004656	0	0
IDH3G	3421	broad.mit.edu	37	X	153053002	153053002	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:153053002G>A	uc004fip.3	-	7	777	c.591C>T	c.(589-591)tcC>tcT	p.S197S	IDH3G_uc004fiq.3_Silent_p.S197S|IDH3G_uc004fit.1_Silent_p.S197S|IDH3G_uc004fiu.3_5'UTR	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAATGCGCAGGGACTTGGCCT	0.592000														20			6		0	0	0.001168	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004909	153004909	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:153004909C>T	uc001fba.3	+	1	152	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SPRR1B_uc021ozp.1_Nonsense_Mutation_p.Q30*	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	30					keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTCCACCTCAGGAACCATG	0.622000														105			38		0	0	0.005524	0	0
BEND4	389206	broad.mit.edu	37	4	42145820	42145820	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:42145820C>T	uc003gwn.3	-	2	1259	c.679G>A	c.(679-681)Gac>Aac	p.D227N	BEND4_uc003gwm.3_Missense_Mutation_p.D227N|BEND4_uc011byy.1_Missense_Mutation_p.D227N	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	227										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCTACATTGTCTGAGGTCTGA	0.443000														19			8		0	0	0.006214	0	0
LYVE1	10894	broad.mit.edu	37	11	10585602	10585602	+	Missense_Mutation	SNP	G	C	C	rs140681022		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:10585602G>C	uc001miv.2	-	2	568	c.282C>G	c.(280-282)ttC>ttG	p.F94L	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	94	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		p.F94F(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AGATGACCACGAATCCATCTC	0.448000														22			6		0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196651860	196651860	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:196651860G>A	uc002utj.4	-	57	10853	c.10752C>T	c.(10750-10752)ttC>ttT	p.F3584F	DNAH7_uc002uti.4_Silent_p.F67F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3584	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGCATGAAAGAAACACAGGC	0.378000														29			9		0	0	0.008291	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606203	84606203	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:84606203C>T	uc004amn.3	+	3	865	c.818C>T	c.(817-819)tCa>tTa	p.S273L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	273						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ACCATCTTTTCATTTGGCTCC	0.512000														182			76		0	0	0.003610	0	0
EWSR1	2130	broad.mit.edu	37	22	29684658	29684658	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:29684658C>T	uc003aet.3	+	7	1185	c.857C>T	c.(856-858)tCc>tTc	p.S286F	EWSR1_uc003aes.4_Missense_Mutation_p.S286F|EWSR1_uc003aev.3_Missense_Mutation_p.S292F|EWSR1_uc003aex.3_Missense_Mutation_p.S286F|EWSR1_uc003aew.3_Missense_Mutation_p.S230F|EWSR1_uc003aey.3_Missense_Mutation_p.S81F|EWSR1_uc003aez.3_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGATTTTCCGGACCAGGA	0.582000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									23			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179594515	179594515	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:179594515G>A	uc021vsy.1	-	59	14958	c.14733C>T	c.(14731-14733)tcC>tcT	p.S4911S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1572S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5838	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAATGAAGGAAATGCCAT	0.443000														55			18		0	0	0.004990	0	0
FAM47C	442444	broad.mit.edu	37	X	37029243	37029243	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:37029243G>A	uc004ddl.2	+	0	2812	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	920										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTTGGACGGGAAAATCCAGA	0.453000														50			12		0	0	0.001368	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114398	27114398	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:27114398C>T	uc003nix.2	-	0	240	c.180G>A	c.(178-180)atG>atA	p.M60I	Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_Missense_Mutation_p.M60I|HIST1H2AH_uc003niz.3_5'Flank|MIR3143_uc021yoz.1_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	Homo sapiens histone cluster 1, H2bk (HIST1H2BK), mRNA.	60					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCATGATTCCCATGGCCTTAG	0.587000														165			7		0	0	0.006214	0	0
FUT9	10690	broad.mit.edu	37	6	96651418	96651418	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:96651418G>A	uc003pop.4	+	2	728	c.387G>A	c.(385-387)caG>caA	p.Q129Q	FUT9_uc021zcw.1_Silent_p.Q129Q	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	129					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CACCCTTCCAGAAATGGATTT	0.463000														22			11		0	0	0.000978	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665305	6665305	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:6665305C>T	uc002mfk.2	-	4	737	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	TNFSF14_uc002mfj.2_Missense_Mutation_p.G83S	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	119					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AAGGCCAGGCCCAGCTGAGTC	0.627000														11			6		0	0	0.001168	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026397	176026397	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:176026397G>A	uc003meo.1	-	1	614	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	GPRIN1_uc021yif.1_Missense_Mutation_p.P147S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	147						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAACATGGGATTTCTGTCA	0.527000														70			23		0	0	0.002299	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180902	142180902	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142180902C>T	uc011krz.2	-	1	98	c.49_splice	c.e1+1	p.G17_splice	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGGACCCACCTGCCCACAGG	0.577000														27			29		0	0	0.008361	0	0
ZNF777	27153	broad.mit.edu	37	7	149129613	149129613	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:149129613G>A	uc003wfv.3	-	5	1913	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTGTGCCGGAAGCTGATC	0.642000														32			35		0	0	0.003271	0	0
EPHB2	2048	broad.mit.edu	37	1	23111487	23111487	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:23111487G>A	uc009vqj.1	+	2	874	c.729G>A	c.(727-729)ggG>ggA	p.G243G	EPHB2_uc001bge.3_Silent_p.G243G|EPHB2_uc001bgf.3_Silent_p.G243G|EPHB2_uc010odu.2_Silent_p.G243G	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	243	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTGTAACGGGGACGGCGAGT	0.652000														56			16		0	0	0.001523	0	0
TFDP3	51270	broad.mit.edu	37	X	132352192	132352192	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:132352192G>A	uc004exb.1	-	0	185	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	32						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTTCACGGTGGAGGTGTGAA	0.517000														6			4		0	0	0.000248	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625926	7625926	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:7625926C>T	uc010xjq.2	+	31	4113	c.3873C>T	c.(3871-3873)ttC>ttT	p.F1291F	PNPLA6_uc002mgq.2_Silent_p.F1243F|PNPLA6_uc010xjp.2_Silent_p.F1216F|PNPLA6_uc002mgr.2_Silent_p.F1243F|PNPLA6_uc002mgs.3_Silent_p.F1281F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1282					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTCTGGCTTCACTGACTTGG	0.652000														11			3		0	0	0.004672	0	0
ERBB4	2066	broad.mit.edu	37	2	212295760	212295760	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:212295760C>T	uc002veg.1	-	20	2651	c.2553G>A	c.(2551-2553)gtG>gtA	p.V851V	ERBB4_uc002veh.1_Silent_p.V851V|ERBB4_uc010zji.1_Silent_p.V841V|ERBB4_uc010zjj.1_Silent_p.V841V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	851	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGGAGATTTCACTAAGACAT	0.413000										TSP Lung(8;0.080)				40			19		0	0	0.001882	0	0
NOS1	4842	broad.mit.edu	37	12	117660623	117660623	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:117660623G>A	uc001twn.2	-	26	4685	c.3974C>T	c.(3973-3975)tCc>tTc	p.S1325F	NOS1_uc021ren.1_Missense_Mutation_p.S955F|NOS1_uc021reo.1_Missense_Mutation_p.S955F|NOS1_uc001twm.2_Missense_Mutation_p.S1291F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1291					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTATCTTGGATTGCCGGCA	0.567000														54			26		0	0	0.004656	0	0
SREBF2	6721	broad.mit.edu	37	22	42293159	42293159	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:42293159G>T	uc003bbi.3	+	13	2768	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	867					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCAAGTCCGCCCTGGGTAA	0.562000														12			7		5.4927e-09	1.23146e-08	0.004482	1	0
ENDOV	284131	broad.mit.edu	37	17	78399410	78399410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:78399410C>T	uc021ueo.1	+	6	732	c.704C>T	c.(703-705)cCc>cTc	p.P235L	ENDOV_uc002jyk.3_Missense_Mutation_p.P190L|ENDOV_uc002jyl.2_Missense_Mutation_p.P190L|ENDOV_uc021uep.1_Non-coding_Transcript|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Non-coding_Transcript	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	235					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ATCCCAGAGCCCGTGCGCCAG	0.682000								Direct reversal of damage						5			3		0	0	0.000248	0	0
ADRA1A	148	broad.mit.edu	37	8	26627970	26627970	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:26627970G>A	uc003xfc.1	-	1	1533	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.A366V|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.A366V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A366V	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	366					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCCTTCCACGGCCTGGCTGGG	0.527000														94			31		0	0	0.002096	0	0
PADI4	23569	broad.mit.edu	37	1	17682598	17682598	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:17682598C>T	uc001baj.2	+	11	1459	c.1431C>T	c.(1429-1431)agC>agT	p.S477S		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	477					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTCCTGAGCTTTGTGCCAG	0.622000														12			6		0	0	0.001168	0	0
BRAT1	221927	broad.mit.edu	37	7	2578060	2578060	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:2578060G>A	uc003smi.3	-	13	2397	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	BRAT1_uc003smh.4_Silent_p.F135F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	703					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CACAAAAGGCGAAGTCAAAGA	0.617000														27			11		0	0	0.008291	0	0
GNAI3	2773	broad.mit.edu	37	1	110128924	110128924	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:110128924C>T	uc001dxz.2	+	5	834	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	226					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTCTGTGTGGCCCTCAGTGAT	0.448000														99			28		0	0	0.001786	0	0
FLNA	2316	broad.mit.edu	37	X	153595823	153595823	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:153595823C>T	uc004fkk.2	-	4	1059	c.810G>A	c.(808-810)aaG>aaA	p.K270K	FLNA_uc010nuu.1_Silent_p.K270K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	270	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCCCCTGGCTTCAGCTTGG	0.637000														46			14		0	0	0.004007	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517057	158517057	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:158517057G>A	uc010pil.2	-	0	839	c.839C>T	c.(838-840)tCt>tTt	p.S280F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTAGAGAACAGATACCACTTT	0.458000														40			17		0	0	0.006122	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898848	182898848	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:182898848C>T	uc001gpu.3	-	5	1401	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	SHCBP1L_uc001gpv.3_Silent_p.R253R|SHCBP1L_uc010pnz.2_Silent_p.R230R|SHCBP1L_uc001gpw.3_Silent_p.R92R	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	444										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTTTTCCTTTCCTACGCCTCA	0.284000														29			5		0	0	0.001984	0	0
LTBP2	4053	broad.mit.edu	37	14	74967592	74967592	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:74967592C>T	uc001xqa.3	-	35	5848	c.5461G>A	c.(5461-5463)Gag>Aag	p.E1821K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTGCTACTCCTTGGCAGTG	0.602000														39			19		0	0	0.008871	0	0
UGCG	7357	broad.mit.edu	37	9	114688773	114688773	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:114688773G>T	uc004bft.3	+	4	845	c.555G>T	c.(553-555)gaG>gaT	p.E185D		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	185					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CCACCTTAGAGCAGGTGAGTA	0.448000														34			10		7.48243e-07	1.67088e-06	0.006214	1	0
KLB	152831	broad.mit.edu	37	4	39409207	39409207	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:39409207C>T	uc003gua.3	+	0	735	c.638C>T	c.(637-639)aCc>aTc	p.T213I	KLB_uc011byj.2_Missense_Mutation_p.T213I	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	213	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAAAATGATACCATAATAGAT	0.388000														47			13		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	107170163	107170163	+	RNA	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:107170163G>A	uc021ser.1	-	44		c.2721C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAGACCTTCAC	0.592000														37			10		0	0	0.008291	0	0
ADCY10	55811	broad.mit.edu	37	1	167806491	167806491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:167806491G>A	uc001ger.3	-	21	3371	c.3073C>T	c.(3073-3075)Cgc>Tgc	p.R1025C	ADCY10_uc010plj.2_Missense_Mutation_p.R872C|ADCY10_uc009wvk.3_Missense_Mutation_p.R933C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1025					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTCTACCTGCGATTTTCAGGA	0.343000														44			12		0	0	0.001855	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086055	31086055	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:31086055C>T	uc009yjk.1	-	7	965	c.896G>A	c.(895-897)aGg>aAg	p.R299K	DCDC5_uc009yjl.1_Missense_Mutation_p.R227K|DCDC5_uc001msu.2_Missense_Mutation_p.R470K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TTCCAGTTTCCTCACCAGTGC	0.473000														113			26		0	0	0.007291	0	0
ADAM29	11086	broad.mit.edu	37	4	175896782	175896782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:175896782C>T	uc003iuc.3	+	4	776	c.106C>T	c.(106-108)Cct>Tct	p.P36S	ADAM29_uc003iud.3_Missense_Mutation_p.P36S|ADAM29_uc010irr.3_Missense_Mutation_p.P36S|ADAM29_uc011cki.2_Missense_Mutation_p.P36S|ADAM29_uc021xuo.1_Missense_Mutation_p.P36S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	36					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGGTGATTCCTGTGAGGAT	0.527000														21			15		0	0	0.003163	0	0
THEMIS	387357	broad.mit.edu	37	6	128134715	128134715	+	Silent	SNP	G	A	A	rs146173025		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:128134715G>A	uc011ebt.2	-	3	1220	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	THEMIS_uc010kfa.3_Silent_p.I260I|THEMIS_uc021zfa.1_Silent_p.I357I|THEMIS_uc010kfb.3_Silent_p.I322I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	357	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.I357I(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CACTCTTAGCGATCTCTAGGT	0.502000														69			33		0	0	0.003755	0	0
ASTN2	23245	broad.mit.edu	37	9	119977015	119977015	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:119977015G>A	uc004bjt.2	-	2	738	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	213						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCGCGATGAGGCCACCCTGG	0.612000														26			5		0	0	0.000602	0	0
KIAA1244	57221	broad.mit.edu	37	6	138608024	138608024	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:138608024G>A	uc003qhu.3	+	15	2927	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	919					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACGGGCTGCGGAAAGCCGCA	0.627000														33			19		0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	177001814	177001814	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:177001814C>T	uc001glc.3	-	2	855	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ASTN1_uc001glb.1_Missense_Mutation_p.E215K|ASTN1_uc001gld.1_Missense_Mutation_p.E215K|ASTN1_uc009wwx.1_Missense_Mutation_p.E215K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	215					cell migration|neuron cell-cell adhesion	integral to membrane		p.R214Q(1)|p.R214R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCAGGCTCTCCCGTCCGTGC	0.617000														25			10		0	0	0.008291	0	0
LHCGR	3973	broad.mit.edu	37	2	48915099	48915099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:48915099G>A	uc002rwu.4	-	10	1907	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	613					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAATTGATGGGATAAAAAAGA	0.383000														34			17		0	0	0.006122	0	0
TRAF2	7186	broad.mit.edu	37	9	139818388	139818388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:139818388C>T	uc004cjv.3	+	9	1280	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TRAF2_uc010nbu.3_Missense_Mutation_p.S408F|TRAF2_uc011mek.2_Missense_Mutation_p.S397F|TRAF2_uc010nbw.3_Missense_Mutation_p.S383F	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	408	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACACACCTGTCCCTCTTCTTT	0.627000														30			8		0	0	0.003080	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629803	7629803	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:7629803G>A	uc002cys.2	+	5	1283	c.295G>A	c.(295-297)Gat>Aat	p.D99N	RBFOX1_uc010buf.1_Missense_Mutation_p.D99N|RBFOX1_uc002cyr.1_Missense_Mutation_p.D98N|RBFOX1_uc002cyt.2_Missense_Mutation_p.D99N|RBFOX1_uc010uxz.1_Missense_Mutation_p.D142N|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.D99N|RBFOX1_uc010uyb.1_Missense_Mutation_p.D99N|RBFOX1_uc002cyw.2_Missense_Mutation_p.D119N|RBFOX1_uc002cyy.2_Missense_Mutation_p.D119N|RBFOX1_uc002cyx.2_Missense_Mutation_p.D119N|RBFOX1_uc010uyc.1_Missense_Mutation_p.D119N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	99					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCACCGACGGATGGCCAGCC	0.527000														44			9		0	0	0.004482	0	0
PDP2	57546	broad.mit.edu	37	16	66918814	66918814	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:66918814C>T	uc021tjw.1	+	0	627	c.627C>T	c.(625-627)ctC>ctT	p.L209L	PDP2_uc002eqk.2_Silent_p.L209L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	209					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTGACCACCTCCGTGTCTATT	0.473000														36			20		0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57769735	57769735	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:57769735C>T	uc002yan.3	+	0	3661	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1221						intracellular	nucleic acid binding|zinc ion binding	p.P1221P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGATGAGGGTCCCAATGGCCC	0.632000														14			5		0	0	0.004482	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432886	104432886	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:104432886C>T	uc004bbp.2	-	2	2409	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	GRIN3A_uc004bbq.1_Missense_Mutation_p.G603E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	603					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCATACTTTCCATCCCCTAC	0.443000														35			10		0	0	0.000978	0	0
ZNF121	7675	broad.mit.edu	37	19	9677528	9677529	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9677528_9677529GG>AA	uc010xkp.1	-	3	492_493	c.260_261CC>TT	c.(259-261)tcc>tTT	p.S87F	ZNF121_uc010dwt.2_Missense_Mutation_p.S87F|ZNF121_uc010xkq.1_Missense_Mutation_p.S87F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TGTATTCAAAGGATTTGTCTCC	0.446000														44			6		0	0	0.004672	0	0
DNER	92737	broad.mit.edu	37	2	230450683	230450683	+	Silent	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:230450683T>A	uc002vpv.3	-	3	885	c.738A>T	c.(736-738)ggA>ggT	p.G246G	DNER_uc010zly.1_5'UTR	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	246					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTGTTGGAATCCTGTGGCCG	0.522000														32			8		0	0	0.004482	0	0
SORT1	6272	broad.mit.edu	37	1	109910034	109910034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:109910034G>A	uc001dxm.2	-	2	485	c.436C>T	c.(436-438)Cga>Tga	p.R146*	SORT1_uc010ovi.2_Nonsense_Mutation_p.R10*|SORT1_uc009wfb.2_Nonsense_Mutation_p.R10*	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	146					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCTCACCTTCGATATAGCTTG	0.388000														195			69		0	0	0.003610	0	0
RASA2	5922	broad.mit.edu	37	3	141274726	141274726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:141274726C>T	uc010huq.1	+	6	656	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RASA2_uc003etz.1_Missense_Mutation_p.P219L|RASA2_uc003eua.1_Missense_Mutation_p.P219L|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	219	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAAGCAATCCGCAGTTTAAT	0.264000														22			7		0	0	0.008291	0	0
KCNG4	93107	broad.mit.edu	37	16	84256066	84256066	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:84256066G>A	uc010voc.2	-	2	1438	c.1317C>T	c.(1315-1317)atC>atT	p.I439I		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	439						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCCCGCTCAGGATGCTGCTGA	0.617000														47			23		0	0	0.002780	0	0
GALNT5	11227	broad.mit.edu	37	2	158115899	158115899	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:158115899C>T	uc002tzg.3	+	0	1560	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	435					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAAGGGACCCCAAAGCTCCAG	0.463000														26			12		0	0	0.002450	0	0
VSTM4	196740	broad.mit.edu	37	10	50315757	50315757	+	Silent	SNP	G	A	A	rs151199777	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:50315757G>A	uc001jhf.2	-	1	368	c.339C>T	c.(337-339)tcC>tcT	p.S113S	VSTM4_uc001jhh.2_Silent_p.S113S	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	113	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTGTCAAGACGGAGAGCCTGT	0.622000														46			22		0	0	0.003954	0	0
ABCA2	20	broad.mit.edu	37	9	139912350	139912350	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:139912350G>A	uc004ckm.1	-	15	2237	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	ABCA2_uc022bpy.1_Silent_p.F630F|ABCA2_uc022bpz.1_Silent_p.F700F|ABCA2_uc011mem.1_Silent_p.F699F|ABCA2_uc004ckl.1_Silent_p.F630F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	699					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGACAAACAGGAAGCTGCGGG	0.657000														10			6		0	0	0.001168	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:96802653G>A	uc001kkb.3	-	6	1238	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CYP2C8_uc010qoa.2_Silent_p.I311I|CYP2C8_uc010qoc.2_Silent_p.I279I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I295I|CYP2C8_uc021pwl.1_Silent_p.I311I|CYP2C8_uc010qod.1_Silent_p.I295I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	381					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453000														55			15		0	0	0.004990	0	0
OR4C3	256144	broad.mit.edu	37	11	48347042	48347042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:48347042C>T	uc010rhv.2	+	0	550	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCATTGGTTCAGCTCCTCCT	0.527000														58			14		0	0	0.002450	0	0
ZFX	7543	broad.mit.edu	37	X	24229378	24229378	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:24229378C>T	uc011mjv.2	+	9	2669	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	ZFX_uc004dbd.2_Missense_Mutation_p.S768F|ZFX_uc004dbf.3_Missense_Mutation_p.S768F|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.S768F|ZFX_uc010nfx.2_Missense_Mutation_p.S539F|ZFX_uc010nfz.3_Missense_Mutation_p.S424F	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACGTTATTTCCATTCACACG	0.433000														50			21		0	0	0.002299	0	0
REPS2	9185	broad.mit.edu	37	X	17152027	17152027	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:17152027G>A	uc004cxv.1	+	14	1830	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	REPS2_uc004cxw.1_Silent_p.K552K|REPS2_uc011miw.1_Silent_p.K351K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	553	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTCCAGCAAAGAAGGTAAGGT	0.512000														78			25		0	0	0.003954	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032010	83032010	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:83032010C>T	uc003uhy.2	-	9	1702	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	SEMA3E_uc022agy.1_Missense_Mutation_p.E301K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	361	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCAGGTCCTTCCTTATGTGCA	0.368000														21			8		0	0	0.006214	0	0
CDA	978	broad.mit.edu	37	1	20931527	20931527	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:20931527C>T	uc001bdk.3	+	1	440	c.261C>T	c.(259-261)atC>atT	p.I87I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Intron	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	87					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CAATTGCTATCGCCAGGTGAG	0.453000														8			8		0	0	0.004482	0	0
CPT1C	126129	broad.mit.edu	37	19	50214011	50214011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:50214011C>T	uc010eng.3	+	15	2079	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Missense_Mutation_p.S505L|CPT1C_uc002ppk.3_Missense_Mutation_p.S577L|CPT1C_uc010enh.3_Missense_Mutation_p.S588L|CPT1C_uc002ppj.3_Missense_Mutation_p.S588L|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Missense_Mutation_p.S245L	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	588					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACTTATGAGTCGGCCATGACT	0.567000														23			5		0	0	0.000602	0	0
TACR3	6870	broad.mit.edu	37	4	104577417	104577417	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:104577417G>A	uc003hxe.1	-	2	963	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	274						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTCCTCCCCAGAGAGTAATTC	0.388000														55			24		0	0	0.003330	0	0
ANAPC1	64682	broad.mit.edu	37	2	87414276	87414276	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:87414276G>A	uc002ssh.3	+	5	398	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RMND5A_uc002srs.4_Intron			Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1, mRNA (cDNA clone IMAGE:3834642), partial cds.	1766					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCAGAAACAGGAAATTCTGGA	0.368000														36			13		0	0	0.003163	0	0
SDPR	8436	broad.mit.edu	37	2	192700700	192700700	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:192700700G>A	uc002utb.3	-	1	1582	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	409						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGTCCCCATCGGAGCGCTCCG	0.632000														27			16		0	0	0.004990	0	0
OR1E1	8387	broad.mit.edu	37	17	3301484	3301484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:3301484G>A	uc002fvj.1	-	0	221	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGTCACGGAAGAGAAGCAGAG	0.488000														28			17		0	0	0.004007	0	0
EXPH5	23086	broad.mit.edu	37	11	108382902	108382902	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:108382902C>T	uc001pkk.3	-	5	3443	c.3332G>A	c.(3331-3333)aGa>aAa	p.R1111K	EXPH5_uc010rvz.2_Missense_Mutation_p.R955K|EXPH5_uc010rvy.2_Missense_Mutation_p.R923K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1111					intracellular protein transport		Rab GTPase binding	p.R1111R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGTCCTTTTCTAACGGAAGT	0.473000														66			17		0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134992694	134992695	+	Missense_Mutation	DNP	CC	TT	TT	rs147236070	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:134992694_134992695CC>TT	uc004ezh.3	+	15	2152_2153	c.1985_1986CC>TT	c.(1984-1986)tcc>tTT	p.S662F	SAGE1_uc010nry.1_Missense_Mutation_p.S631F|SAGE1_uc011mvv.2_Missense_Mutation_p.S286F	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	662										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGAATTTCATCCACGATTACCA	0.436000														84			22		0	0	0.004672	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383596	118383596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:118383596C>T	uc001lcq.3	+	3	213	c.190C>T	c.(190-192)Cca>Tca	p.P64S	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	64					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAATGAAAATCCAAACAACTT	0.498000														51			14		0	0	0.001855	0	0
XAB2	56949	broad.mit.edu	37	19	7692201	7692201	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:7692201G>A	uc002mgx.3	-	3	476	c.450C>T	c.(448-450)ccC>ccT	p.P150P	C19orf79_uc021unv.1_5'Flank|C19orf79_uc010dvi.2_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	150					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCAGATACAGGGGCCAAATTC	0.652000								Direct reversal of damage;Nucleotide excision repair (NER)						19			6		0	0	0.001984	0	0
PRB1	5542	broad.mit.edu	37	12	11506543	11506543	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:11506543C>T	uc001qzw.1	-	3	528	c.491G>A	c.(490-492)gGa>gAa	p.G164E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	165	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGGTTACCTCCTTGTGGGGG	0.612000														136			14		0	0	0.004656	0	0
CDR2	1039	broad.mit.edu	37	16	22358818	22358818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:22358818G>A	uc002dkn.3	-	4	1141	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	278						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACATACAGAGAGTCTGGCAC	0.542000														21			7		0	0	0.003080	0	0
GRM5	2915	broad.mit.edu	37	11	88300511	88300511	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:88300511C>T	uc001pcq.3	-	6	2540	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	GRM5_uc009yvm.3_Silent_p.T780T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	780					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.T780T(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TAATGCAGGTCGTGTACATTG	0.458000														64			30		0	0	0.001786	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129930	55129930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:55129930C>T	uc003han.4	+	3	795	c.464C>T	c.(463-465)cCc>cTc	p.P155L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.P155L|PDGFRA_uc010igq.1_Missense_Mutation_p.P49L|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	155	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACAACTGATCCCGAGACTCCT	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				42			20		0	0	0.008871	0	0
NCAM1	4684	broad.mit.edu	37	11	113078089	113078089	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:113078089G>A	uc021qqp.1	+	5	1101	c.729G>A	c.(727-729)atG>atA	p.M243I	NCAM1_uc001pno.3_Missense_Mutation_p.M127I|NCAM1_uc001pnp.3_Missense_Mutation_p.M243I|NCAM1_uc021qqo.1_Missense_Mutation_p.M243I|NCAM1_uc001pnq.3_Missense_Mutation_p.M243I|NCAM1_uc001pnr.3_Missense_Mutation_p.M243I	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	245	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCCCACCATGAGCTGGACAA	0.537000														39			15		0	0	0.002450	0	0
FGFR2	2263	broad.mit.edu	37	10	123256123	123256123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:123256123C>T	uc021pzz.1	-	12	2433	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	FGFR2_uc021pzv.1_Missense_Mutation_p.E484K|FGFR2_uc021pzw.1_Missense_Mutation_p.E481K|FGFR2_uc021pzx.1_Missense_Mutation_p.E507K|FGFR2_uc021pzy.1_Missense_Mutation_p.E597K|FGFR2_uc010qtl.2_Missense_Mutation_p.E480K|FGFR2_uc010qtm.2_Missense_Mutation_p.E479K|FGFR2_uc021qaa.1_Missense_Mutation_p.E597K|FGFR2_uc021qab.1_Missense_Mutation_p.E508K|FGFR2_uc021qac.1_Missense_Mutation_p.E525K|FGFR2_uc001lfg.4_Missense_Mutation_p.E204K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	596	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTCATCTGCTCCTCAGGAACA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					143			39		0	0	0.004289	0	0
C6	729	broad.mit.edu	37	5	41143030	41143030	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:41143030C>T	uc003jmk.2	-	17	2912	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E	C6_uc003jml.1_Missense_Mutation_p.G901E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	901	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGATGATCCCATTTTGAC	0.448000														61			8		0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100682054	100682054	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:100682054G>A	uc003uxp.1	+	2	7410	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2453	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCCTAGTGAAGGAACCAC	0.537000														210			121		0	0	0.003610	0	0
FAM55D	54827	broad.mit.edu	37	11	114450878	114450878	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:114450878C>T	uc001ppc.3	-	4	1256	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	FAM55D_uc001ppd.3_Missense_Mutation_p.E75K	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	359						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGAAGTATTCCATCCACTGG	0.418000														89			25		0	0	0.002096	0	0
PTGFR	5737	broad.mit.edu	37	1	78958526	78958526	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:78958526C>T	uc001din.3	+	1	364	c.98C>T	c.(97-99)tCa>tTa	p.S33L	PTGFR_uc001dim.3_Missense_Mutation_p.S33L	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	33					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GTATTTTTTTCAGTAATCTTC	0.443000														40			12		0	0	0.001368	0	0
OLFML2B	25903	broad.mit.edu	37	1	161976197	161976197	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:161976197C>T	uc010pkq.2	-	3	1037	c.613G>A	c.(613-615)Gag>Aag	p.E205K	OLFML2B_uc001gbu.3_Missense_Mutation_p.E205K	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	205								p.T204T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTATTCATCTCGGTTCGAATT	0.433000														42			30		0	0	0.008361	0	0
NLRC5	84166	broad.mit.edu	37	16	57101676	57101676	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:57101676G>A	uc021tiu.1	+	34	4562	c.4435G>A	c.(4435-4437)Gat>Aat	p.D1479N	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.D21N|NLRC5_uc002ekr.1_Missense_Mutation_p.D366N	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1479					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGTGAGGACGATGATGCCAG	0.507000														48			15		0	0	0.003163	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512139	47512139	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:47512139G>A	uc001cqt.3	+	9	1324	c.1074_splice	c.e9-1	p.W358_splice	CYP4X1_uc001cqr.3_Splice_Site_p.W357_splice|CYP4X1_uc001cqs.3_Splice_Site_p.W293_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	358						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCCTCACAGGGACCAGCTGG	0.473000														36			8		0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78907158	78907158	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:78907158G>A	uc004akc.2	+	24	3690	c.3152G>A	c.(3151-3153)gGa>gAa	p.G1051E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	751					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GATGATCCAGGAACATGTACA	0.353000														69			18		0	0	0.007413	0	0
SCN10A	6336	broad.mit.edu	37	3	38798212	38798212	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:38798212C>T	uc003ciq.3	-	8	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	415					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AACTTCTTCTCCTTTGCTTCA	0.507000														67			27		0	0	0.005443	0	0
DNAH3	55567	broad.mit.edu	37	16	20976479	20976479	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:20976479C>T	uc010vbe.2	-	52	8727	c.8727G>A	c.(8725-8727)agG>agA	p.R2909R	DNAH3_uc010vbd.2_Silent_p.R344R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2909	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCTGCCTCCCTCAGTCGCT	0.602000														105			32		0	0	0.002836	0	0
ABCG4	64137	broad.mit.edu	37	11	119031730	119031730	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:119031730G>A	uc001pvs.3	+	14	2191	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ABCG4_uc009zar.3_Missense_Mutation_p.D619N	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	619	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTCTACATGGACTTCCTGGT	0.597000														30			9		0	0	0.006214	0	0
PSKH2	85481	broad.mit.edu	37	8	87081842	87081842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:87081842C>T	uc011lfy.2	-	0	10	c.10G>A	c.(10-12)Ggc>Agc	p.G4S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	4							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTGCTGGCGCCGCACCCCATA	0.711000														9			4		0	0	0.000248	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017931	161017931	+	Silent	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:161017931T>C	uc001fxl.3	-	11	3226	c.2880A>G	c.(2878-2880)gcA>gcG	p.A960A	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Silent_p.A749A|ARHGAP30_uc001fxm.3_Silent_p.A806A|ARHGAP30_uc009wtx.3_Silent_p.A633A	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	960					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTTGCAGGTGCCACATGAA	0.592000														75			22		0	0	0.001523	0	0
PLA2G3	50487	broad.mit.edu	37	22	31535929	31535929	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:31535929C>T	uc003aka.3	-	0	541	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	138					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCAGGGACTCCACTCTGCCCT	0.617000														21			9		0	0	0.006214	0	0
FAM189B	10712	broad.mit.edu	37	1	155220345	155220345	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:155220345G>A	uc001fjm.3	-	8	1838	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	FAM189B_uc009wql.3_Missense_Mutation_p.P213L|FAM189B_uc001fjn.3_Missense_Mutation_p.P315L|FAM189B_uc001fjo.3_Missense_Mutation_p.P393L|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	411						integral to membrane	WW domain binding	p.P410A(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCCAGTGGGGGTGGAGCTTC	0.746000														7			5		0	0	0.001168	0	0
INTS2	57508	broad.mit.edu	37	17	59989344	59989344	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:59989344C>T	uc002izn.3	-	5	837	c.761G>A	c.(760-762)tGt>tAt	p.C254Y	INTS2_uc002izm.3_Missense_Mutation_p.C246Y	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	254					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCATTTTACACAAGAAGCG	0.433000														107			37		0	0	0.004878	0	0
KIAA1549	57670	broad.mit.edu	37	7	138583700	138583700	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:138583700C>T	uc011kql.2	-	9	3896	c.3847_splice	c.e9+1	p.P1283_splice	KIAA1549_uc011kqi.2_Intron|KIAA1549_uc011kqk.2_Intron|KIAA1549_uc011kqj.2_Splice_Site_p.P1283_splice	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1283						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGGCACTTACGCTGGGCAAT	0.512000			O	BRAF	pilocytic astrocytoma									64			14		0	0	0.002450	0	0
ODZ4	26011	broad.mit.edu	37	11	78381171	78381171	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:78381171C>T	uc001ozl.4	-	31	6682	c.6219G>A	c.(6217-6219)gaG>gaA	p.E2073E	ODZ4_uc001ozk.4_Silent_p.E298E	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2073					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCATGCCTTCCTCAGTGAAGC	0.542000														15			8		0	0	0.004482	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953359	140953359	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:140953359G>A	uc011mwp.2	+	1	226	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	76										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCGAATGGATAGTCTTGT	0.507000														56			18		0	0	0.002299	0	0
PTPRD	5789	broad.mit.edu	37	9	8470993	8470993	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:8470993A>G	uc003zkk.3	-	31	4247	c.3504_splice	c.e31+1	p.E1168_splice	PTPRD_uc003zkp.3_Splice_Site_p.E757_splice|PTPRD_uc003zkq.3_Splice_Site_p.E757_splice|PTPRD_uc003zkr.3_Splice_Site_p.E752_splice|PTPRD_uc003zks.3_Splice_Site_p.E747_splice|PTPRD_uc022bdj.1_Splice_Site_p.E754_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1168					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACACAGTTACCTCATCTAA	0.438000										TSP Lung(15;0.13)				37			13		0	0	0.001368	0	0
ILDR1	286676	broad.mit.edu	37	3	121724178	121724178	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:121724178C>T	uc003ees.3	-	2	495	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	ILDR1_uc003eeq.3_Missense_Mutation_p.E110K|ILDR1_uc003eer.3_Missense_Mutation_p.E98K|ILDR1_uc010hrg.3_Missense_Mutation_p.E98K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	98	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity	p.R97R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATGCGAACTTCCCGCTGGTTG	0.602000														12			13		0	0	0.002450	0	0
PNPLA7	375775	broad.mit.edu	37	9	140414475	140414475	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:140414475G>A	uc010ncj.1	-	10	1315	c.978C>T	c.(976-978)ctC>ctT	p.L326L	PNPLA7_uc011mfa.1_Silent_p.L32L|PNPLA7_uc004cnf.2_Silent_p.L301L	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	301				K -> M (in Ref. 1; BAC86036).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTACAGACACGAGAGGGATGG	0.597000														104			37		0	0	0.007835	0	0
SLC6A14	11254	broad.mit.edu	37	X	115568978	115568978	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:115568978G>A	uc004eqi.3	+	1	200	c.69G>A	c.(67-69)gaG>gaA	p.E23E	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	23					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTTCATCAGAGAATTTCCATG	0.388000														147			58		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8499680	8499680	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:8499680G>A	uc003zkk.3	-	24	3032	c.2289C>T	c.(2287-2289)ccC>ccT	p.P763P	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	763	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTTCAGCATGGGCTGGCCCT	0.438000										TSP Lung(15;0.13)				68			23		0	0	0.004656	0	0
IFT122	55764	broad.mit.edu	37	3	129218838	129218838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:129218838G>A	uc003eml.3	+	19	2661	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M	IFT122_uc003emm.3_Missense_Mutation_p.V768M|IFT122_uc003emn.3_Missense_Mutation_p.V709M|IFT122_uc003emo.3_Missense_Mutation_p.V657M|IFT122_uc003emp.3_Missense_Mutation_p.V618M|IFT122_uc010htc.3_Missense_Mutation_p.V760M|IFT122_uc011bky.2_Missense_Mutation_p.V559M|IFT122_uc011bla.2_Missense_Mutation_p.V541M|IFT122_uc003emr.3_Missense_Mutation_p.V520M|IFT122_uc010hte.3_Missense_Mutation_p.V94M|IFT122_uc003ems.3_Missense_Mutation_p.V149M|IFT122_uc011bkx.1_Missense_Mutation_p.V608M|IFT122_uc010htd.1_Missense_Mutation_p.V247M	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	768					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.V819L(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAAGCCGCCGTGGAGATGTA	0.527000														20			16		0	0	0.003163	0	0
DCC	1630	broad.mit.edu	37	18	50936913	50936913	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:50936913C>T	uc002lfe.2	+	19	3643	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	DCC_uc010xdr.1_Silent_p.I837I|DCC_uc010dpf.2_Silent_p.I644I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1009	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATCAAATCATGGATCTCA	0.388000														45			24		0	0	0.003954	0	0
ATM	472	broad.mit.edu	37	11	108121577	108121577	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:108121577T>C	uc001pkb.1	+	9	1770	c.1385T>C	c.(1384-1386)gTt>gCt	p.V462A	ATM_uc009yxr.1_Missense_Mutation_p.V462A	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	462					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTACGGAAGTTGCATTGTGT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				52			22		0	0	0.002780	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883953	105883953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:105883953G>A	uc002tcq.3	-	11	2554	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.P593S|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P824S|LOC644617_uc002tcp.3_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCACAAAAGGGATTTTGGCAT	0.468000														40			19		0	0	0.007413	0	0
HLA-G	3135	broad.mit.edu	37	6	29797602	29797602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29797602C>T	uc003nnw.2	+	5	1083	c.905C>T	c.(904-906)tCc>tTc	p.S302F	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.S274F|HLA-G_uc003raj.3_Missense_Mutation_p.S307F|HLA-G_uc003nnz.3_Missense_Mutation_p.S210F|HLA-G_uc010jrn.2_Missense_Mutation_p.S118F|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGCAGTCTTCCCTGCCCACC	0.582000														44			13		0	0	0.004007	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630184	47630184	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:47630184C>T	uc002xtx.4	+	28	4154	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F	ARFGEF2_uc010zyf.2_Silent_p.F627F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1334					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCATCTTATTCGAACTCTCCT	0.463000														44			5		0	0	0.000602	0	0
ZIM3	114026	broad.mit.edu	37	19	57647422	57647422	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:57647422C>T	uc002qnz.1	-	4	669	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTTCACATCCTTTGGCTTC	0.398000														88			28		0	0	0.002096	0	0
MGP	4256	broad.mit.edu	37	12	15035979	15035979	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:15035979G>A	uc021qvr.1	-	3	300	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	MGP_uc001rcn.2_Missense_Mutation_p.P33S	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	33	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAATGAAGGGATCTTAGAAC	0.368000														33			16		0	0	0.006122	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403526	144403526	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:144403526C>T	uc003yxz.3	-	7	1010	c.991G>A	c.(991-993)Gac>Aac	p.D331N	TOP1MT_uc011lkd.2_Missense_Mutation_p.D233N|TOP1MT_uc011lke.2_Missense_Mutation_p.D233N|TOP1MT_uc011lkf.2_Missense_Mutation_p.D126N|TOP1MT_uc010mfd.1_Missense_Mutation_p.D126N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	331					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCTCACCGTCCTCCTTCTCA	0.632000														36			15		0	0	0.004990	0	0
B3GNT4	79369	broad.mit.edu	37	12	122689220	122689220	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:122689220C>T	uc001ubx.3	+	1	273	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	B3GNT4_uc001uby.3_Intron	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	19					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TAGGAGTGGCCTTTTACCAAA	0.642000														24			4		0	0	0.000248	0	0
OR2J3	442186	broad.mit.edu	37	6	29080287	29080287	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29080287C>T	uc011dll.2	+	0	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCACAAGCTCCATATTTGTT	0.463000														53			10		0	0	0.008291	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501461	90501461	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:90501461G>A	uc004app.4	+	3	2094	c.2059G>A	c.(2059-2061)Ggc>Agc	p.G687S	FAM75E1_uc004apo.1_Missense_Mutation_p.G499S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	687						integral to membrane											TGCAGGGAAGGGCAGGAAGGA	0.612000														48			13		0	0	0.002450	0	0
SCN2A	6326	broad.mit.edu	37	2	166223779	166223779	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:166223779G>A	uc002udc.3	+	18	3863	c.3573G>A	c.(3571-3573)ggG>ggA	p.G1191G	SCN2A_uc002udd.3_Silent_p.G1191G|SCN2A_uc002ude.3_Silent_p.G1191G	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1191					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGGCAAAGGGAAACTCTGGT	0.383000														28			13		0	0	0.003163	0	0
ADAM7	8756	broad.mit.edu	37	8	24324428	24324428	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:24324428C>T	uc003xeb.3	+	5	619	c.506C>T	c.(505-507)tCc>tTc	p.S169F	ADAM7_uc003xea.1_Missense_Mutation_p.S169F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	169					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAATTATTCCTGTACAGAG	0.373000														58			14		0	0	0.007413	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504160	178504160	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:178504160C>T	uc003mju.3	+	3	358	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CTTCAGATACCCGTCTAGGTA	0.463000														25			8		0	0	0.004482	0	0
AKAP9	10142	broad.mit.edu	37	7	91726016	91726016	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:91726016C>T	uc003ulg.3	+	40	9968	c.9743C>T	c.(9742-9744)tCa>tTa	p.S3248L	AKAP9_uc003ulf.3_Missense_Mutation_p.S3240L|AKAP9_uc003uli.3_Missense_Mutation_p.S2871L|AKAP9_uc003ulj.3_Missense_Mutation_p.S1018L|AKAP9_uc003ull.3_Missense_Mutation_p.S144L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3252					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAGTTTTCACTTGAGAGT	0.383000			T	BRAF	papillary thyroid									19			19		0	0	0.007413	0	0
MRPL4	51073	broad.mit.edu	37	19	10370360	10370361	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:10370360_10370361GG>AA	uc002mnm.3	+	9	961_962	c.807_808GG>AA	c.(805-810)ctggag>ctAAag	p.E270K	MRPL4_uc002mnn.3_Missense_Mutation_p.E270K|MRPL4_uc002mno.3_3'UTR	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	270					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCGCCTTCCTGGAGGACAAGCT	0.683000														15			7		0	0	0.004672	0	0
GBE1	2632	broad.mit.edu	37	3	81699036	81699036	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:81699036G>A	uc021xav.1	-	3	748	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	GBE1_uc021xax.1_Missense_Mutation_p.R115C	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	156					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGTGAAATACGATACAAGATC	0.363000									Glycogen Storage Disease, type IV					23			12		0	0	0.001368	0	0
FSTL4	23105	broad.mit.edu	37	5	132537632	132537632	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:132537632G>A	uc003kyn.1	-	14	2037	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	FSTL4_uc003kym.1_Missense_Mutation_p.H256Y	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	607						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCTGATGTGGTTGATGATG	0.572000														61			20		0	0	0.001882	0	0
NLRP11	204801	broad.mit.edu	37	19	56312940	56312940	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56312940C>T	uc010ygf.2	-	6	2880	c.2169G>A	c.(2167-2169)ctG>ctA	p.L723L	NLRP11_uc002qlz.3_Silent_p.L570L|NLRP11_uc002qmb.3_Silent_p.L624L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTCACCTCAGATGACTTA	0.493000														56			17		0	0	0.006122	0	0
IL20RA	53832	broad.mit.edu	37	6	137329747	137329747	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:137329747C>T	uc003qhj.3	-	4	1146	c.713G>A	c.(712-714)aGg>aAg	p.R238K	IL20RA_uc011edl.2_Missense_Mutation_p.R189K|IL20RA_uc003qhk.3_Missense_Mutation_p.R127K|IL20RA_uc003qhi.3_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	238						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTTCAAAGTCCTGGCACACTG	0.493000														80			19		0	0	0.002299	0	0
RNF214	257160	broad.mit.edu	37	11	117152104	117152104	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:117152104T>C	uc001pqt.3	+	8	1265	c.1220T>C	c.(1219-1221)aTg>aCg	p.M407T	RNF214_uc001pqu.3_Missense_Mutation_p.M407T|RNF214_uc010rxf.2_Missense_Mutation_p.M252T	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	407							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTTCGGATAATGAAAAAGAAT	0.433000														14			6		0	0	0.001984	0	0
TOM1L2	146691	broad.mit.edu	37	17	17769636	17769636	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:17769636G>A	uc002grz.4	-	9	1215	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	TOM1L2_uc002gry.4_Missense_Mutation_p.S303F|TOM1L2_uc010vwy.2_Missense_Mutation_p.S300F|TOM1L2_uc010cpr.3_Missense_Mutation_p.S308F|TOM1L2_uc010vwz.2_Missense_Mutation_p.S205F|TOM1L2_uc010vxa.2_Missense_Mutation_p.S255F|TOM1L2_uc002grv.4_Missense_Mutation_p.S86F	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	353					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGAGGAGAGGGAAGATGGGGG	0.572000														13			4		0	0	0.001168	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3789485	3789485	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:3789485C>T	uc010sen.1	-	4	831	c.259G>A	c.(259-261)Gag>Aag	p.E87K	EFCAB4B_uc001qmj.2_Missense_Mutation_p.E87K	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	87	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGTTCCTCCAGGCTGAGC	0.527000														24			17		0	0	0.007413	0	0
NLRP4	147945	broad.mit.edu	37	19	56363683	56363684	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56363683_56363684GG>AA	uc002qmd.4	+	1	659_660	c.237_238GG>AA	c.(235-240)atggat>atAAat	p.79_80MD>IN		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	79	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAAGATGGATAGAAAGGA	0.426000														55			9		0	0	0.004672	0	0
KRT222	125113	broad.mit.edu	37	17	38816255	38816255	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:38816255C>T	uc002hvc.2	-	2	495	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	KRT222_uc002hvb.2_Missense_Mutation_p.E104K|KRT222_uc010cxc.3_Missense_Mutation_p.E104K	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	144						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTCTTTTTCTAGGAGGTGG	0.423000														71			17		0	0	0.007413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731224	57731224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:57731224C>T	uc010bfw.3	+	2	1220	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CGNL1_uc002aeg.3_Missense_Mutation_p.R343W	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	343	Head.					myosin complex|tight junction	motor activity	p.R343W(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAACTGGACGGGATATTGA	0.438000														33			9		0	0	0.004482	0	0
TAGAP	117289	broad.mit.edu	37	6	159463193	159463193	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:159463193C>T	uc003qrz.3	-	4	564	c.232G>A	c.(232-234)Gag>Aag	p.E78K	TAGAP_uc011eft.2_Missense_Mutation_p.E15K|TAGAP_uc003qsa.3_Intron|TAGAP_uc003qsb.3_Missense_Mutation_p.E78K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	78					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGTCTGTCTCCAAAGCCCCA	0.488000														107			33		0	0	0.002445	0	0
GPR87	53836	broad.mit.edu	37	3	151012384	151012384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:151012384G>A	uc003eyt.2	-	2	1011	c.650C>T	c.(649-651)gCc>gTc	p.A217V	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	217						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A217A(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCAGCACGGCCACAAACAA	0.458000														43			18		0	0	0.004990	0	0
GPR39	2863	broad.mit.edu	37	2	133402767	133402767	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:133402767C>T	uc002ttl.3	+	1	1419	c.950C>T	c.(949-951)tCc>tTc	p.S317F	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	317						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGACGAGGTCCTACTTCCGG	0.582000														27			13		0	0	0.001855	0	0
AGBL1	123624	broad.mit.edu	37	15	86697787	86697787	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:86697787C>T	uc002blz.1	+	2	331	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	84					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGTTTGCCTCCAGTGGTAAG	0.522000														16			6		0	0	0.003080	0	0
CCDC6	8030	broad.mit.edu	37	10	61554277	61554277	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:61554277G>A	uc001jks.4	-	7	1416	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	395						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AAGACCCGGGGAATTGTAATA	0.453000			T	RET	NSCLC									22			9		0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40396021	40396021	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:40396021G>A	uc002omp.4	-	14	7384	c.7376C>T	c.(7375-7377)cCc>cTc	p.P2459L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2459	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGTAGTGGGGATCTCCCGA	0.677000														43			5		0	0	0.001168	0	0
TERT	7015	broad.mit.edu	37	5	1266600	1266600	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1266600G>A	uc003jcb.1	-	9	2691	c.2633C>T	c.(2632-2634)aCc>aTc	p.T878I	TERT_uc003jbz.1_Missense_Mutation_p.T74I|TERT_uc003jcc.1_Missense_Mutation_p.T878I|TERT_uc003jca.1_Missense_Mutation_p.T866I|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.T30I	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	878	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.R877Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTTCGCGTGGGTGAGGTGAGG	0.537000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					12			3		0	0	0.000248	0	0
PLB1	151056	broad.mit.edu	37	2	28772881	28772881	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:28772881G>A	uc002rmb.2	+	15	1057	c.1013G>A	c.(1012-1014)aGc>aAc	p.S338N	PLB1_uc010ezj.2_Missense_Mutation_p.S349N|PLB1_uc002rmc.3_Missense_Mutation_p.S26N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	338	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGAGAGCCCCTATCTG	0.463000														19			6		0	0	0.001984	0	0
LRRK2	120892	broad.mit.edu	37	12	40653294	40653294	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:40653294G>A	uc001rmg.4	+	12	1552	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L	LRRK2_uc001rmh.1_Silent_p.L99L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	477					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACACTTCCCTGGATATAATGG	0.408000														33			13		0	0	0.003163	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:137235267G>A	uc003lby.3	+	4	643	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PKD2L2_uc010jep.1_Missense_Mutation_p.R136Q|PKD2L2_uc003lbw.1_Missense_Mutation_p.R196Q|PKD2L2_uc003lbx.3_Missense_Mutation_p.R196Q|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	196						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGTTTACCGAAATGGGGGA	0.383000														32			11		0	0	0.001855	0	0
FGA	2243	broad.mit.edu	37	4	155505343	155505343	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:155505343G>A	uc003iod.1	-	5	2592	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	845	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCTCTAAAGGAAACCCAGAC	0.493000														82			34		0	0	0.006230	0	0
RAG1	5896	broad.mit.edu	37	11	36597229	36597229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:36597229C>T	uc021qgb.1	+	0	2375	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P792L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	792					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGACAGTCCCTTCCATAGAT	0.488000									Familial Hemophagocytic Lymphohistiocytosis					60			16		0	0	0.004990	0	0
TERT	7015	broad.mit.edu	37	5	1278770	1278770	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1278770C>T	uc003jcb.1	-	5	2330	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	TERT_uc003jbz.1_Silent_p.R14R|TERT_uc003jcc.1_Missense_Mutation_p.A758T|TERT_uc003jca.1_Missense_Mutation_p.A746T|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.A210T	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	758	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCTTGAAGGCCTTGCGGACG	0.562000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					149			136		0	0	0.003610	0	0
ECE2	9718	broad.mit.edu	37	3	184008402	184008402	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:184008402C>T	uc003fni.4	+	14	2105	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	ECE2_uc011brh.1_Silent_p.I542I|ECE2_uc003fnl.4_Silent_p.I617I|ECE2_uc003fnm.4_Silent_p.I571I|ECE2_uc003fnk.4_Silent_p.I542I|ECE2_uc011bri.1_Silent_p.I604I|ECE2_uc010hxv.3_Silent_p.I333I	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	689	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.I542I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAATGAGATCGTCTTCCCCG	0.627000														58			21		0	0	0.002780	0	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152326001_152326002CC>TT	uc001ezw.4	-	2	4333_4334	c.4260_4261GG>AA	c.(4258-4263)agggga>agAAga	p.G1421R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1421							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCCCTTCTTCCAG	0.530000														125			54		0	0	0.004672	0	0
LRRC66	339977	broad.mit.edu	37	4	52861452	52861452	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:52861452G>A	uc003gzi.3	-	3	1743	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	579						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCGGAGAGGGAAGGGTCTAA	0.502000														82			25		0	0	0.006320	0	0
NLRC4	58484	broad.mit.edu	37	2	32476326	32476326	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:32476326G>A	uc002roi.3	-	3	868	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	NLRC4_uc021vfq.1_Missense_Mutation_p.L203F|NLRC4_uc002roj.2_Missense_Mutation_p.L203F|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	203	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGAGACGGAGGAAGAAGACG	0.527000														42			13		0	0	0.001368	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:185074732C>T	uc003iwc.3	-	1	538	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000														25			6		0	0	0.003080	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183107	147183107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:147183107G>A	uc003weu.2	+	10	2267	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	584	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATGAGACAGGATACAGTGGG	0.458000										HNSCC(39;0.1)				85			13		0	0	0.002450	0	0
MYOM1	8736	broad.mit.edu	37	18	3187585	3187585	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:3187585G>A	uc002klp.3	-	4	1156	c.822C>T	c.(820-822)ctC>ctT	p.L274L	MYOM1_uc002klq.3_Silent_p.L274L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	274						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGAGCATGGAGAAGATGGT	0.408000														22			10		0	0	0.006214	0	0
ACAP2	23527	broad.mit.edu	37	3	195022715	195022715	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:195022715G>A	uc003fun.4	-	13	1546	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	435	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGAGCACTCGATACACAAGG	0.522000														69			25		0	0	0.003954	0	0
NUP188	23511	broad.mit.edu	37	9	131760848	131760848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:131760848G>A	uc004bws.1	+	31	3483	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	NUP188_uc004bwu.3_Missense_Mutation_p.R497H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1154					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AACTGCCTTCGCCTTGGCTCC	0.582000														50			21		0	0	0.004656	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394102	233394102	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:233394102G>A	uc001hvl.2	-	4	1741	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	502						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTTAGACTCGGAGCCTGTAT	0.562000														29			18		0	0	0.002299	0	0
KNDC1	85442	broad.mit.edu	37	10	135038295	135038295	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:135038295C>T	uc001llz.1	+	29	5152	c.5151C>T	c.(5149-5151)ctC>ctT	p.L1717L		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1717	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTTCCACACTCGCCGCAGATA	0.577000														19			5		0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215990482	215990482	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:215990482A>T	uc001hku.1	-	47	9814	c.9427T>A	c.(9427-9429)Tat>Aat	p.Y3143N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3143	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGAGATCATATCCAAGAATG	0.408000										HNSCC(13;0.011)				39			17		0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141267510	141267510	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:141267510G>A	uc002tvj.1	-	51	9357	c.8385C>T	c.(8383-8385)tcC>tcT	p.S2795S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2795	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCTGCTGTGGAAAGCTCAT	0.512000										TSP Lung(27;0.18)				57			26		0	0	0.006320	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:14542672G>A	uc010dln.3	-	0	928	c.474C>T	c.(472-474)atC>atT	p.I158I	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000														88			26		0	0	0.007291	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166868	72166868	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:72166868A>C	uc002fcc.4	-	9	1398	c.1226T>G	c.(1225-1227)aTg>aGg	p.M409R	PMFBP1_uc002fcd.3_Missense_Mutation_p.M409R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.M264R	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	409								p.E408K(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCTTGCAGCATCTCATCTTT	0.498000														57			18		0	0	0.008871	0	0
CAPN10	11132	broad.mit.edu	37	2	241530424	241530424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:241530424G>A	uc002vzk.2	+	2	662	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	CAPN10_uc010zoh.2_Missense_Mutation_p.A156T|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.A156T|CAPN10_uc002vzn.2_Intron|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	156	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding	p.Y155Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AAAGGTCTACGCCAAGTGCGT	0.637000														21			7		0	0	0.001984	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060883	76060883	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:76060883C>T	uc002jud.2	+	4	3076	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	TNRC6C_uc002juf.2_Silent_p.L823L|TNRC6C_uc002jue.2_Silent_p.L823L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	826	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTTCTACCCTGGTGGATAA	0.562000														20			6		0	0	0.004482	0	0
KAT6B	23522	broad.mit.edu	37	10	76788814	76788814	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:76788814A>G	uc001jwn.1	+	17	4725	c.4232A>G	c.(4231-4233)gAg>gGg	p.E1411G	KAT6B_uc001jwo.1_Missense_Mutation_p.E1119G|KAT6B_uc001jwp.1_Missense_Mutation_p.E1228G	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1411	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACGAAGAGGAGGAGGAAGAG	0.493000														32			7		0	0	0.001984	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951469	30951470	+	Nonsense_Mutation	DNP	AG	TA	TA			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:30951469_30951470AG>TA	uc003aig.1	-	3	882_883	c.742_743CT>TA	c.(742-744)ctg>TAg	p.L248*	GAL3ST1_uc003aih.1_Nonsense_Mutation_p.L248*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.L248*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.L248*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	248					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.H247Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AAGGAGCACCAGGTGGAAGCGA	0.614000														28			18		0	0	0.004672	0	0
MYH2	4620	broad.mit.edu	37	17	10436645	10436645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:10436645C>T	uc010coi.3	-	20	2526	c.2398G>A	c.(2398-2400)Ggg>Agg	p.G800R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G800R|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	800	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGAACCCTCTGCACCTG	0.458000														53			26		0	0	0.007291	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:168101234C>T	uc002udx.3	+	8	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S936L|XIRP2_uc010fpq.3_Missense_Mutation_p.S889L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAGTTTCGTTAATGACC	0.368000														17			13		0	0	0.002450	0	0
CERKL	375298	broad.mit.edu	37	2	182412551	182412551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:182412551G>A	uc002unx.3	-	9	1336	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.S386F|CERKL_uc010zfm.2_Missense_Mutation_p.S368F|CERKL_uc002unz.3_Missense_Mutation_p.S134F|CERKL_uc002uoa.3_Missense_Mutation_p.S317F|CERKL_uc002uob.3_Missense_Mutation_p.S134F|CERKL_uc002uoc.3_Missense_Mutation_p.S273F|CERKL_uc021vth.1_Missense_Mutation_p.S181F|CERKL_uc021vti.1_Missense_Mutation_p.S134F|CERKL_uc021vtj.1_Missense_Mutation_p.S89F|CERKL_uc021vtk.1_Missense_Mutation_p.S134F|CERKL_uc021vtl.1_Missense_Mutation_p.S89F|CERKL_uc021vtm.1_Missense_Mutation_p.S181F|CERKL_uc002uod.2_Missense_Mutation_p.S181F|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	412					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGACTCACCAGATTTGGGAGA	0.403000														87			40		0	0	0.007835	0	0
TAB1	10454	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:39772070C>T	uc003axr.3	+	1	1911	c.129C>T	c.(127-129)ttC>ttT	p.F43F	TAB1_uc003axo.4_Silent_p.F117F|TAB1_uc003axq.4_Silent_p.F117F|TAB1_uc003axs.4_Silent_p.F118F	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCTGGGCTTTCCTCTGGTTCG	0.632000														80			35		0	0	0.007835	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581310	234581310	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:234581310C>T	uc002vus.3	+	0	767	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.L244F	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	247					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGAGTATGATCTCTACAGCCA	0.423000														145			44		0	0	0.003610	0	0
TMCO3	55002	broad.mit.edu	37	13	114201629	114201630	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:114201629_114201630CC>TT	uc001vtu.4	+	10	2066_2067	c.1705_1706CC>TT	c.(1705-1707)ccc>TTc	p.P569F		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	569						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCACGTGTTCCCCACGTTTGTG	0.574000														28			6		0	0	0.004672	0	0
INTS10	55174	broad.mit.edu	37	8	19689597	19689597	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:19689597C>T	uc022asn.1	+	10	1487	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	INTS10_uc003wzj.3_Silent_p.F451F	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	451					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAGAATCTTCCTCACTGATA	0.388000														23			10		0	0	0.001368	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552686	173552686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:173552686C>T	uc001giz.2	-	5	1022	c.599G>A	c.(598-600)gGa>gAa	p.G200E	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	200					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCGAAAATTTCCAAAAAAAAT	0.279000														34			14		0	0	0.002450	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117397991	117397991	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:117397991G>A	uc003vjf.3	-	10	3298	c.3206C>T	c.(3205-3207)gCg>gTg	p.A1069V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1069										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGGGGACTGCGCGAAGCTCTG	0.443000														13			9		0	0	0.000978	0	0
C14orf109	26175	broad.mit.edu	37	14	93653003	93653003	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:93653003T>C	uc001ybk.4	+	1	481	c.383T>C	c.(382-384)cTg>cCg	p.L128P	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.L166P|C14orf109_uc021sax.1_Missense_Mutation_p.L128P	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	160						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		AGACTACAACTGATTGACACG	0.423000														62			26		0	0	0.006320	0	0
AP3D1	8943	broad.mit.edu	37	19	2117228	2117228	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:2117228G>A	uc002lva.3	-	15	2075	c.1852C>T	c.(1852-1854)Ccc>Tcc	p.P618S	AP3D1_uc002luy.3_Missense_Mutation_p.P527S|AP3D1_uc002luz.3_Missense_Mutation_p.P618S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	618					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCCTTCGGGGACTGGAACC	0.637000														13			3		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	22	23247219	23247219	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:23247219C>T	uc021wml.1	+	439		c.17641_splice	c.e439+2		abParts_uc021wmm.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGTCTCTTCTCCCCTCTCCTT	0.542000														30			13		0	0	0.002450	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938200	68938200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:68938200C>T	uc003hdt.1	-	4	404	c.355G>A	c.(355-357)Gat>Aat	p.D119N	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	119	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.P118T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTTGTTCATCTGGACTGAAG	0.294000														15			4		0	0	0.000602	0	0
DNAH8	1769	broad.mit.edu	37	6	38883070	38883070	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:38883070G>A	uc021yzh.1	+	67	10166	c.10057G>A	c.(10057-10059)Gaa>Aaa	p.E3353K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3136K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.A3352T(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTGTGGATGAAATTGATAG	0.418000														23			9		0	0	0.004482	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554652	44554652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:44554652C>T	uc010xdb.2	-	0	1798	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AGCCTGTTTTCGGGTTTTGTc	0.652000														340			9		0	0	0.002450	0	0
GALNT6	11226	broad.mit.edu	37	12	51751177	51751177	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:51751177T>C	uc001ryk.2	-	8	1783	c.1558A>G	c.(1558-1560)Aag>Gag	p.K520E	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.K520E|GALNT6_uc001ryj.1_Missense_Mutation_p.K85E	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	520	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGG	0.602000														26			15		0	0	0.007413	0	0
RELN	5649	broad.mit.edu	37	7	103141318	103141318	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:103141318G>A	uc022ajr.1	-	52	8701	c.8541C>T	c.(8539-8541)atC>atT	p.I2847I	RELN_uc022ajq.1_Silent_p.I2847I|RELN_uc010liz.3_Silent_p.I2847I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2847					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAATTATCGATTGCCCACT	0.458000														104			24		0	0	0.006320	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174907	193174907	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:193174907G>A	uc003ftd.3	-	15	1905	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	ATP13A4_uc003fte.1_Silent_p.F599F|ATP13A4_uc011bsr.1_Silent_p.F70F|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	599					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGAGAATGGGAACTGATGCA	0.512000														55			13		0	0	0.002450	0	0
APLP2	334	broad.mit.edu	37	11	129998953	129998953	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:129998953C>T	uc010sby.2	+	9	1464	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	APLP2_uc001qfp.3_Missense_Mutation_p.A436V|APLP2_uc001qfq.3_Missense_Mutation_p.A380V|APLP2_uc010sbz.2_Missense_Mutation_p.A224V|APLP2_uc001qfr.3_Missense_Mutation_p.A202V|APLP2_uc001qfs.3_Missense_Mutation_p.A207V|APLP2_uc021qsg.1_Missense_Mutation_p.A446V|APLP2_uc001qfv.3_Missense_Mutation_p.A327V	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	436					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CACTTCCAAGCCATGGTTAAA	0.547000														19			9		0	0	0.006214	0	0
DIP2C	22982	broad.mit.edu	37	10	465122	465122	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:465122G>A	uc001ifp.3	-	5	712	c.622C>T	c.(622-624)Cct>Tct	p.P208S		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	208						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTTACGTCAGGAGGTGCAGAA	0.537000														59			24		0	0	0.004656	0	0
HAS1	3036	broad.mit.edu	37	19	52220345	52220345	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:52220345C>T	uc002pxn.1	-	1	838	c.825G>A	c.(823-825)cgG>cgA	p.R275R	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Silent_p.R233R|HAS1_uc002pxo.1_Silent_p.R268R|HAS1_uc002pxp.1_Silent_p.R267R	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	268					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTTAAGGATCCGCACGTCCC	0.607000														55			20		0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|V600M(IGR1_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					35			36		0	0	0.004672	0	0
OR4E2	26686	broad.mit.edu	37	14	22133327	22133327	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:22133327G>A	uc010tmd.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGAGTGACTGAATTTGTCTT	0.368000														62			22		0	0	0.002780	0	0
ACADM	34	broad.mit.edu	37	1	76199254	76199254	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:76199254G>C	uc001dgw.4	+	4	758	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	ACADM_uc010orc.1_Intron|ACADM_uc010ord.2_Missense_Mutation_p.E24Q|ACADM_uc009wbr.3_Missense_Mutation_p.E143Q|ACADM_uc010ore.2_Missense_Mutation_p.E74Q|ACADM_uc010orf.2_Intron|ACADM_uc009wbp.3_Missense_Mutation_p.E114Q|ACADM_uc010org.2_Intron	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTTAATTAGTGAAGAATTGGC	0.348000														49			23		0	0	0.007291	0	0
MPP7	143098	broad.mit.edu	37	10	28378627	28378627	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:28378627C>T	uc001iua.1	-	13	1500	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E366K|MPP7_uc009xla.2_Missense_Mutation_p.E366K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	366					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGTATTTTTCATTAGTTTGT	0.393000														89			25		0	0	0.003954	0	0
TLL1	7092	broad.mit.edu	37	4	166924563	166924563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:166924563G>A	uc003irh.2	+	5	1300	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	TLL1_uc021xud.1_Missense_Mutation_p.R218Q|TLL1_uc011cjn.2_Missense_Mutation_p.R218Q|TLL1_uc011cjo.2_Missense_Mutation_p.R42Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	218	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGTAGGTCGGCGAGGAAAT	0.428000														43			18		0	0	0.008871	0	0
TMEM175	84286	broad.mit.edu	37	4	945483	945483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:945483C>T	uc003gbq.3	+	5	454	c.356C>T	c.(355-357)aCc>aTc	p.T119I	TMEM175_uc010ibl.1_Missense_Mutation_p.T119I|TMEM175_uc003gbp.1_Missense_Mutation_p.T37I|TMEM175_uc003gbs.3_Missense_Mutation_p.T2I|TMEM175_uc003gbt.3_Missense_Mutation_p.T2I|TMEM175_uc003gbr.3_Missense_Mutation_p.T37I	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	119						integral to membrane		p.T119S(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCATGATGACCATCACCTTC	0.612000														63			21		0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:34087804G>A	uc001bxm.1	-	36	5967	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_uc001bxn.1_Silent_p.I1890I|CSMD2_uc001bxo.1_Silent_p.I803I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1890	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATACGCTGATATCTGAGT	0.517000														88			29		0	0	0.002836	0	0
RNGTT	8732	broad.mit.edu	37	6	89600286	89600286	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:89600286G>A	uc003pmr.2	-	7	1044	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RNGTT_uc003pms.2_Missense_Mutation_p.S275F|RNGTT_uc011dzu.1_Missense_Mutation_p.S215F|RNGTT_uc003pmt.2_Missense_Mutation_p.S275F	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	275	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTTGTCCATGGAAACAGGCTG	0.383000														21			9		0	0	0.006214	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116093018	116093018	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:116093018G>T	uc001lbn.3	-	2	483	c.182C>A	c.(181-183)aCc>aAc	p.T61N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.T61N|AFAP1L2_uc010qse.2_Missense_Mutation_p.T61N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.T61N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.T61N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	61					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTTGTTGATGGTCACTTTGTT	0.498000														43			14		1.49906e-05	3.32761e-05	0.002450	1	0
DNAH5	1767	broad.mit.edu	37	5	13766162	13766162	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:13766162C>T	uc003jfd.2	-	58	10066	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3342	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCTTTTTTCCAGGTCAATT	0.488000									Kartagener syndrome					101			22		0	0	0.001882	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333798	35333798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:35333798C>T	uc001mwd.3	-	3	1100	c.508G>A	c.(508-510)Gac>Aac	p.D170N	SLC1A2_uc021qfx.1_Missense_Mutation_p.D161N|SLC1A2_uc001mwe.3_Missense_Mutation_p.D161N|SLC1A2_uc010rev.1_Missense_Mutation_p.D170N	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	170					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CGAATAAGGTCCAGGAAGGCA	0.488000														102			41		0	0	0.008740	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603446	94603446	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:94603446C>T	uc001tdc.3	+	4	1769	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	507					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.P507H(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAAGTGCCCTAAAATTCAG	0.363000														85			29		0	0	0.002836	0	0
FLG2	388698	broad.mit.edu	37	1	152328424	152328424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152328424G>A	uc001ezw.4	-	2	1911	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	613	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGACCTGATCTAGACTC	0.507000														142			51		0	0	0.003610	0	0
THADA	63892	broad.mit.edu	37	2	43804250	43804250	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:43804250G>A	uc002rsw.4	-	9	1300	c.948C>T	c.(946-948)gcC>gcT	p.A316A	THADA_uc002rsx.4_Silent_p.A316A|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_Silent_p.A26A|THADA_uc002rta.2_Silent_p.A26A|THADA_uc002rtb.1_Silent_p.A316A|THADA_uc002rtc.4_Silent_p.A316A|THADA_uc002rtd.3_Silent_p.A316A	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	316							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGTCCAACATGGCAAGTGTCC	0.532000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		222			85		0	0	0.003610	0	0
GPR162	27239	broad.mit.edu	37	12	6933395	6933395	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:6933395C>T	uc001qqw.1	+	1	866	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	GPR162_uc010sfn.1_Missense_Mutation_p.L111F|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGTCGCCTCCCTCTCCTACCA	0.597000														37			18		0	0	0.007413	0	0
WBP2NL	164684	broad.mit.edu	37	22	42423026	42423026	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:42423026C>T	uc003bbt.3	+	5	865	c.771C>T	c.(769-771)ctC>ctT	p.L257L	WBP2NL_uc011apk.2_Silent_p.L129L|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	257	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.L257L(2)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTCGGATATGGAG	0.612000														114			45		0	0	0.003610	0	0
GPR64	10149	broad.mit.edu	37	X	19031830	19031830	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:19031830G>A	uc004cyx.3	-	15	1315	c.1073C>T	c.(1072-1074)aCt>aTt	p.T358I	GPR64_uc004cze.3_Missense_Mutation_p.T328I|GPR64_uc004cza.3_Missense_Mutation_p.T336I|GPR64_uc004czf.3_Missense_Mutation_p.T320I|GPR64_uc004cyy.3_Missense_Mutation_p.T355I|GPR64_uc004czc.3_Missense_Mutation_p.T342I|GPR64_uc004cyz.3_Missense_Mutation_p.T344I|GPR64_uc004czb.3_Missense_Mutation_p.T358I|GPR64_uc004czd.3_Missense_Mutation_p.T334I|GPR64_uc004cyw.3_Missense_Mutation_p.T342I|GPR64_uc010nfj.3_Missense_Mutation_p.T328I	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	358					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGCGCTGGTAGTGTTGACATT	0.522000														64			24		0	0	0.004656	0	0
BBS12	166379	broad.mit.edu	37	4	123665154	123665154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:123665154G>A	uc021xrm.1	+	2	2488	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	BBS12_uc003ieu.3_Missense_Mutation_p.E703K|BBS12_uc021xrn.1_Missense_Mutation_p.E703K	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	703					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAATTCACAGGAATTAACGGG	0.348000									Bardet-Biedl syndrome					47			18		0	0	0.008871	0	0
CNTN4	152330	broad.mit.edu	37	3	2967331	2967331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:2967331C>T	uc003bpc.3	+	12	1565	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	CNTN4_uc003bpb.1_Missense_Mutation_p.S81L|CNTN4_uc021wsg.1_Missense_Mutation_p.S409L|CNTN4_uc003bpd.1_Missense_Mutation_p.S409L|CNTN4_uc003bpe.3_Missense_Mutation_p.S81L|CNTN4_uc003bpf.3_Missense_Mutation_p.S81L	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	409	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAGATTTTTCAAGAACACTC	0.368000														52			24		0	0	0.002780	0	0
PCYT1A	5130	broad.mit.edu	37	3	195968927	195968927	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:195968927G>A	uc003fwg.3	-	7	773	c.600C>T	c.(598-600)atC>atT	p.I200I	PCYT1A_uc003fwh.3_Silent_p.I200I	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	200	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	p.I200I(2)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CTGATGTGGAGATACCTTCTG	0.468000														33			9		0	0	0.006214	0	0
STK31	56164	broad.mit.edu	37	7	23775395	23775395	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:23775395C>T	uc003sws.4	+	6	789	c.722C>T	c.(721-723)cCt>cTt	p.P241L	STK31_uc003swt.4_Missense_Mutation_p.P218L|STK31_uc011jze.2_Missense_Mutation_p.P241L|STK31_uc010kuq.3_Missense_Mutation_p.P218L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	241							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P241H(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCCCATTCCTTTGTGGGGG	0.453000														45			12		0	0	0.001368	0	0
DDI1	414301	broad.mit.edu	37	11	103908533	103908533	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:103908533T>G	uc001phr.2	+	0	1226	c.983T>G	c.(982-984)aTg>aGg	p.M328R	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	328					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCATGGATATGCTTCTAGGC	0.428000														62			25		0	0	0.004656	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789491	140789491	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:140789491C>T	uc003lkj.2	+	0	1722	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F574F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	576	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCGCGTTCTTCGATATGG	0.642000														8			5		0	0	0.001168	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745751	90745751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:90745751G>A	uc011lti.2	-	3	2230	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	734																	TGCAGGTGAGGAGGCCTGAAG	0.572000														35			15		0	0	0.004007	0	0
FOSB	2354	broad.mit.edu	37	19	45976038	45976038	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:45976038C>T	uc002pbx.4	+	3	1377	c.785C>T	c.(784-786)cCg>cTg	p.P262L	ERCC1_uc002pbu.2_Intron|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Intron|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Intron|FOSB_uc010eke.3_Missense_Mutation_p.P187L|FOSB_uc002pby.4_Missense_Mutation_p.P226L|FOSB_uc010ekf.3_Missense_Mutation_p.P223L|FOSB_uc010ekg.3_Missense_Mutation_p.P119L|FOSB_uc002pca.4_Missense_Mutation_p.P213L	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	262					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCGCCACCACCGCCCCTGCCC	0.672000														14			5		0	0	0.000602	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261175	151261175	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:151261175C>T	uc003wkk.3	-	13	2184	c.1573G>A	c.(1573-1575)Gta>Ata	p.V525I	PRKAG2_uc003wki.3_Missense_Mutation_p.V284I|PRKAG2_uc011kvl.2_Missense_Mutation_p.V400I|PRKAG2_uc003wkj.3_Missense_Mutation_p.V481I|PRKAG2_uc003wkl.2_Missense_Mutation_p.V73I	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	525	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TCAGCTCTTACTATTCTGTCC	0.517000														111			19		0	0	0.007413	0	0
OR10H4	126541	broad.mit.edu	37	19	16060754	16060754	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:16060754C>T	uc010xov.2	+	0	937	c.937C>T	c.(937-939)Cct>Tct	p.P313S		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AAAATTCTGTCCTCCAAGTTC	0.393000														22			7		0	0	0.001984	0	0
EVPL	2125	broad.mit.edu	37	17	74004714	74004714	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:74004714G>A	uc010wss.1	-	21	4866	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	EVPL_uc002jqi.2_Silent_p.I1524I|EVPL_uc010wst.1_Silent_p.I994I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1524	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGCACCCGGATCACTTCCT	0.617000														41			20		0	0	0.001523	0	0
USP13	8975	broad.mit.edu	37	3	179470094	179470094	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:179470094C>T	uc003fkh.3	+	13	1812	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	577					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGCTTCATTCCCTGAATACT	0.368000														61			9		0	0	0.006214	0	0
C9orf84	158401	broad.mit.edu	37	9	114476800	114476800	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:114476800C>T	uc004bfr.3	-	14	2283	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.K677K|C9orf84_uc010mug.3_Silent_p.K627K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	716								p.K677N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTTTCAGGCTTTTTCCCCC	0.383000														35			9		0	0	0.004482	0	0
GPR34	2857	broad.mit.edu	37	X	41555639	41555639	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:41555639G>A	uc022bvc.1	+	0	753	c.753G>A	c.(751-753)agG>agA	p.R251R	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Silent_p.R251R|GPR34_uc004dfq.4_Silent_p.R251R|GPR34_uc010nhg.3_Silent_p.R251R|GPR34_uc004dfr.4_Silent_p.R251R	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	251						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTTCTAAAAGGAGGTCAAAAT	0.303000														17			8		0	0	0.004482	0	0
OTOGL	283310	broad.mit.edu	37	12	80714293	80714293	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:80714293G>A	uc001szd.3	+	32	3873	c.3867G>A	c.(3865-3867)gaG>gaA	p.E1289E		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCTGTGGGAGGCGAATTCAG	0.433000														27			9		0	0	0.004482	0	0
KLK13	26085	broad.mit.edu	37	19	51559877	51559877	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:51559877G>A	uc002pvn.3	-	4	844	c.801C>T	c.(799-801)acC>acT	p.T267T	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.T194T|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Silent_p.T115T	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	267					proteolysis		protein binding|serine-type endopeptidase activity	p.E266*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTGCTGCTGGGTTTCATATT	0.507000														134			48		0	0	0.003610	0	0
GSTK1	373156	broad.mit.edu	37	7	142962155	142962155	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142962155C>T	uc003wci.3	+	3	439	c.354C>T	c.(352-354)tcC>tcT	p.S118S	GSTK1_uc011ksy.2_Silent_p.S75S|GSTK1_uc003wcj.3_Silent_p.S118S|GSTK1_uc011ksz.2_Silent_p.S118S	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	118						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGAAAGCGTCCCGGGAGCTGT	0.602000														41			4		0	0	0.000602	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:107361157C>T	uc011lvp.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000														69			31		0	0	0.008361	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873490	43873490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:43873490G>A	uc001zrw.3	-	8	1078	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjy.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc010udr.2_Nonsense_Mutation_p.R292*	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	292					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R292*(1)		large_intestine(1)	1						ACTGGATATCGAATCTCTTTC	0.512000														98			33		0	0	0.004289	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167316	140167316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:140167316G>A	uc003lhb.2	+	0	1441	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	PCDHAC2_uc003lha.2_Missense_Mutation_p.D481N|PCDHAC2_uc003lgz.3_Missense_Mutation_p.D481N	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	495	Cadherin 5.				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)			GTCTGCGCGGGACGCGGACGC	0.652000														44			21		0	0	0.003330	0	0
XIST	7503	broad.mit.edu	37	X	73064192	73064192	+	RNA	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:73064192C>T	uc004ebm.1	-	0		c.8397G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGTGGGTACTCCTTGTTGAAA	0.403000														43			13		0	0	0.001855	0	0
FBXL12	54850	broad.mit.edu	37	19	9921871	9921871	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9921871G>A	uc002mme.3	-	2	924	c.682C>T	c.(682-684)Cga>Tga	p.R228*	FBXL12_uc002mmd.3_Nonsense_Mutation_p.R175*|FBXL12_uc002mmf.3_Nonsense_Mutation_p.R175*|FBXL12_uc002mmg.3_Nonsense_Mutation_p.R175*	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	228							protein binding	p.R228L(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGCACATCTCGGAGGTGGCGG	0.672000														21			4		0	0	0.000248	0	0
MMRN1	22915	broad.mit.edu	37	4	90816646	90816646	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:90816646G>A	uc003hst.3	+	0	595	c.524G>A	c.(523-525)gGa>gAa	p.G175E	MMRN1_uc010iku.3_Missense_Mutation_p.G141E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	175					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ggaggcGTGGGAAATCGAGCC	0.498000														25			6		0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238283377	238283377	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:238283377G>A	uc002vwl.2	-	7	3642	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	COL6A3_uc002vwo.2_Silent_p.I913I|COL6A3_uc010znj.1_Silent_p.I512I|COL6A3_uc002vwq.3_Silent_p.I913I|COL6A3_uc002vwr.3_Silent_p.I712I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1119	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTGACCAGGATGTTCCTCA	0.642000														38			28		0	0	0.007291	0	0
COL22A1	169044	broad.mit.edu	37	8	139763734	139763734	+	Silent	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:139763734G>T	uc003yvd.3	-	21	2499	c.2052C>A	c.(2050-2052)ggC>ggA	p.G684G	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	684	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCCATCCCTGCCTTCTGGGC	0.453000										HNSCC(7;0.00092)				45			15		2.48551e-13	5.59488e-13	0.004990	1	0
SELP	6403	broad.mit.edu	37	1	169586410	169586410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:169586410C>T	uc001ggi.4	-	2	402	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.E113K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	113	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCTCAGCCTCGTTGGTGAGA	0.483000														102			24		0	0	0.002780	0	0
LPHN2	23266	broad.mit.edu	37	1	82447542	82447542	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:82447542G>T	uc001dit.4	+	17	3294	c.3113G>T	c.(3112-3114)tGg>tTg	p.W1038L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.W1038L|LPHN2_uc001div.3_Missense_Mutation_p.W1038L|LPHN2_uc009wcd.3_Missense_Mutation_p.W1038L|LPHN2_uc001diw.3_Missense_Mutation_p.W622L|LPHN2_uc009wce.1_Missense_Mutation_p.W139L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1051					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCACCTGGTCCTTTGGG	0.398000														157			11		3.07112e-06	6.8308e-06	0.000978	1	0
RASGRP4	115727	broad.mit.edu	37	19	38910816	38910816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:38910816C>T	uc021uub.1	-	4	678	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.R155Q|RASGRP4_uc021uua.1_Missense_Mutation_p.R155Q|RASGRP4_uc021uuc.1_Missense_Mutation_p.R155Q|RASGRP4_uc021uud.1_Missense_Mutation_p.R155Q|RASGRP4_uc021uue.1_Missense_Mutation_p.R155Q|RASGRP4_uc021uuf.1_Missense_Mutation_p.R155Q	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	155	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTGCCCTCCCGGGCCACGGT	0.597000														15			5		0	0	0.001168	0	0
CD300C	10871	broad.mit.edu	37	17	72537788	72537788	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:72537788C>T	uc002jky.1	-	3	976	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	205					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGGTCTGTTCACCCAGAGGA	0.597000														28			11		0	0	0.000978	0	0
NEB	4703	broad.mit.edu	37	2	152534666	152534666	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:152534666C>T	uc021vrb.1	-	30	3320	c.3291G>A	c.(3289-3291)ggG>ggA	p.G1097G	NEB_uc002txu.3_Silent_p.G1097G|NEB_uc021vrc.1_Silent_p.G1097G|NEB_uc010fnx.3_Silent_p.G1097G|NEB_uc021vrd.1_Silent_p.G1097G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1097					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCTTTAGCCT	0.363000														19			6		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	107062318	107062318	+	RNA	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:107062318C>T	uc021ser.1	-	150		c.6668G>A								Parts of antibodies, mostly variable regions.																		GACCCAGATTCACCAGTTACC	0.597000														23			9		0	0	0.004482	0	0
EPHA1	2041	broad.mit.edu	37	7	143096020	143096020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:143096020C>T	uc003wcz.3	-	5	1097	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	337	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R337Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTCAGGTTTCGGGGGGCCGA	0.637000														7			6		0	0	0.001168	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148287	45148287	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:45148287G>A	uc001uzn.4	-	0	2415	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	642	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ACATGGCCTGGGGCCATCTGT	0.522000														95			29		0	0	0.002445	0	0
OR2W1	26692	broad.mit.edu	37	6	29012292	29012292	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29012292T>G	uc003nlw.2	-	0	661	c.661A>C	c.(661-663)Att>Ctt	p.I221L	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTTTGGCAATGTAGCCATAG	0.408000														50			17		0	0	0.004990	0	0
ALPL	249	broad.mit.edu	37	1	21890535	21890535	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:21890535G>A	uc001bet.3	+	6	730	c.473_splice	c.e6-1	p.G158_splice	ALPL_uc010odo.2_Splice_Site_p.G103_splice|ALPL_uc010odp.2_Splice_Site_p.G81_splice|ALPL_uc010odn.2_Splice_Site_p.G106_splice|ALPL_uc001beu.4_Splice_Site_p.G158_splice	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	158					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCACCCCAGGGAAATCTGTGG	0.647000														19			6		0	0	0.001984	0	0
NSMCE1	197370	broad.mit.edu	37	16	27238100	27238100	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:27238100G>A	uc002doi.1	-	5	639	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	NSMCE1_uc002doj.1_Non-coding_Transcript	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	Homo sapiens non-SMC element 1 homolog (S. cerevisiae) (NSMCE1), mRNA.	181					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TACGTCTCCCGGATGTATTGC	0.637000														58			18		0	0	0.006122	0	0
BAAT	570	broad.mit.edu	37	9	104125180	104125180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:104125180G>A	uc010mtd.3	-	3	896	c.787C>T	c.(787-789)Cct>Tct	p.P263S	BAAT_uc004bbd.4_Missense_Mutation_p.P263S	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	263					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ATGCCAAAAGGAAAGTTGGTC	0.443000														49			23		0	0	0.002780	0	0
PAPPA	5069	broad.mit.edu	37	9	118982354	118982354	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:118982354C>T	uc004bjn.3	+	4	2438	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PAPPA_uc011lxp.1_Missense_Mutation_p.T381M|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	686					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.T685I(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCCACACAACGGACTCTGTG	0.577000														79			29		0	0	0.002096	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164360	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:139164359_139164360CC>GT	uc003yuy.3	-	12	2529_2530	c.2358_2359GG>AC	c.(2356-2361)gcggac>gcACac	p.D787H	FAM135B_uc003yux.3_Missense_Mutation_p.D688H|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.D349H|FAM135B_uc003yvb.3_Missense_Mutation_p.D349H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	787								p.D787Y(3)|p.D787N(3)|p.A786T(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCAG	0.520000										HNSCC(54;0.14)				29			11		0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61830314	61830314	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:61830314T>C	uc001jky.3	-	36	10663	c.10325A>G	c.(10324-10326)aAg>aGg	p.K3442R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3442					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATATCTTTCTTAATTTCCAT	0.463000														33			16		0	0	0.003163	0	0
SMTN	6525	broad.mit.edu	37	22	31492806	31492806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:31492806C>T	uc003ajl.2	+	13	2190	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	SMTN_uc003ajk.2_Missense_Mutation_p.T650I|SMTN_uc003ajm.2_Missense_Mutation_p.T650I|SMTN_uc011ale.2_Missense_Mutation_p.T735I|SMTN_uc011alf.2_Missense_Mutation_p.T706I|SMTN_uc003ajn.2_Missense_Mutation_p.T673I|SMTN_uc011alg.2_Missense_Mutation_p.T106I|SMTN_uc003ajo.2_Intron|SMTN_uc011alh.1_Non-coding_Transcript|SMTN_uc010gwe.2_Intron	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	650					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACTGAGACCACCACGAGGCAC	0.687000														22			16		0	0	0.003163	0	0
GCNT3	9245	broad.mit.edu	37	15	59911499	59911499	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:59911499C>T	uc002age.3	+	2	1511	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	GCNT3_uc002agd.3_Silent_p.I354I|GCNT3_uc021smz.1_Silent_p.I354I	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	354					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTACGACATCTCAGACATGA	0.552000														63			21		0	0	0.001523	0	0
OR2T1	26696	broad.mit.edu	37	1	248569888	248569888	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248569888C>T	uc010pzm.2	+	0	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G197V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATAGCAGGTTCCTGGTTTGGG	0.542000														48			14		0	0	0.003163	0	0
DLL4	54567	broad.mit.edu	37	15	41228536	41228536	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:41228536C>T	uc001zng.2	+	8	1687	c.1351C>T	c.(1351-1353)Cac>Tac	p.H451Y		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	451	EGF-like 7.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTTGCGCCCACGGTGGCAC	0.637000														10			4		0	0	0.000248	0	0
SCN4A	6329	broad.mit.edu	37	17	62026783	62026783	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:62026783C>T	uc002jds.1	-	14	3036	c.2959G>A	c.(2959-2961)Ggg>Agg	p.G987R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	987					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCTGCTCCCCCTCGGGGTTC	0.657000														4			4		0	0	0.000248	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560939	44560939	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:44560939C>T	uc002lcr.1	-	0	1050	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	233					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTTTTTCCTGGCGAGAC	0.617000														17			9		0	0	0.004482	0	0
EIF2C2	27161	broad.mit.edu	37	8	141567195	141567195	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:141567195G>A	uc003yvn.3	-	7	1060	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EIF2C2_uc010meo.3_Missense_Mutation_p.P340L|EIF2C2_uc010men.3_Missense_Mutation_p.P263L	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	340	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TGCCTCCAGGGGAAGGTAGGT	0.612000														71			19		0	0	0.008871	0	0
C4orf51	646603	broad.mit.edu	37	4	146617735	146617735	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:146617735C>T	uc003ikk.3	+	1	258	c.258C>T	c.(256-258)gcC>gcT	p.A86A		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	86										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ACAGTTCTGCCTGTCATCTTC	0.433000														29			13		0	0	0.002450	0	0
ANK1	286	broad.mit.edu	37	8	41550174	41550174	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:41550174C>T	uc003xok.3	-	30	3934	c.3850G>A	c.(3850-3852)Gac>Aac	p.D1284N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.D600N|ANK1_uc003xoi.3_Missense_Mutation_p.D1284N|ANK1_uc003xoj.3_Missense_Mutation_p.D1284N|ANK1_uc003xol.3_Missense_Mutation_p.D1284N|ANK1_uc003xom.3_Missense_Mutation_p.D1325N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1284					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTCTATGTCCCTGCTCCGG	0.612000														194			68		0	0	0.003610	0	0
IHH	3549	broad.mit.edu	37	2	219920030	219920030	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:219920030C>T	uc002vjo.2	-	2	1184	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	379					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.E379G(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCACACCCTCCCCCGGAGTC	0.657000														10			6		0	0	0.001168	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701292	56701292	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56701292C>T	uc010ygh.2	-	3	1392	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E464V(1)|p.E464*(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTAGGGCTTCTCTCCGGAGT	0.542000														34			8		0	0	0.004482	0	0
TUSC3	7991	broad.mit.edu	37	8	15508241	15508241	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:15508241C>T	uc003wwt.3	+	2	688	c.344C>T	c.(343-345)tCc>tTc	p.S115F	TUSC3_uc003wwu.3_Missense_Mutation_p.S115F	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	115					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTGGCGAACTCCTGGCGCTAT	0.393000														77			27		0	0	0.008361	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156910128	156910128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:156910128C>T	uc001fqo.3	-	34	4524	c.3484G>A	c.(3484-3486)Ggt>Agt	p.G1162S	ARHGEF11_uc010phu.2_Missense_Mutation_p.G578S|ARHGEF11_uc001fqn.3_Missense_Mutation_p.G1202S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1162					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.G1162G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGGACACCCAGTTCCTCT	0.602000														29			6		0	0	0.001168	0	0
FLCN	201163	broad.mit.edu	37	17	17120420	17120420	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:17120420T>A	uc002gra.4	-	9	1643	c.1139A>T	c.(1138-1140)gAc>gTc	p.D380V	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	380					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGGTCCACGTCTCTGCTTTT	0.557000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					16			7		0	0	0.003080	0	0
MYH6	4624	broad.mit.edu	37	14	23858677	23858677	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:23858677C>T	uc001wjv.3	-	27	3974	c.3903G>A	c.(3901-3903)tcG>tcA	p.S1301S	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1301					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGTCAGCTGCGAGATTAGCG	0.602000														39			19		0	0	0.007413	0	0
TACR3	6870	broad.mit.edu	37	4	104640803	104640803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:104640803C>T	uc003hxe.1	-	0	171	c.30G>A	c.(28-30)tgG>tgA	p.W10*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	10						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCCCGTCTATCCAGGTTTCTG	0.672000														30			7		0	0	0.004482	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978413	91978413	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:91978413C>T	uc011ltm.1	-	19	2694	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aql.2_Non-coding_Transcript|SEMA4D_uc004aqm.2_Non-coding_Transcript	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 2, mRNA.	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGAGAGCTCTCTGGTCCAC	0.617000														27			17		0	0	0.004990	0	0
OR8I2	120586	broad.mit.edu	37	11	55861531	55861531	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:55861531T>C	uc010rix.2	+	0	748	c.748T>C	c.(748-750)Ttt>Ctt	p.F250L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTAACTATCTTTTATGGGTC	0.483000														73			23		0	0	0.003330	0	0
XIST	7503	broad.mit.edu	37	X	73071335	73071335	+	RNA	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:73071335G>A	uc004ebm.1	-	0		c.1254C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CGCCATTTTGGACAACCTAAC	0.498000														89			47		0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766229	57766229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:57766229C>T	uc002yan.3	+	0	155	c.155C>T	c.(154-156)aCt>aTt	p.T52I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	52	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCCCCCACTGTGTTCCTG	0.731000														13			4		0	0	0.000248	0	0
NME8	51314	broad.mit.edu	37	7	37907456	37907456	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:37907456C>T	uc003tfn.3	+	10	1146	c.774C>T	c.(772-774)gtC>gtT	p.V258V		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	258					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AACCTGAGGTCGAAGCCCAGG	0.443000														9			11		0	0	0.008291	0	0
CACNA1I	8911	broad.mit.edu	37	22	40068251	40068251	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:40068251C>T	uc003ayc.3	+	26	4587	c.4587C>T	c.(4585-4587)gtC>gtT	p.V1529V	CACNA1I_uc003ayd.3_Silent_p.V1494V|CACNA1I_uc003aye.3_Silent_p.V1444V|CACNA1I_uc003ayf.3_Silent_p.V1409V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1529					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCACCACTGTCTTTGTGCTGG	0.532000														136			37		0	0	0.006230	0	0
OR4K14	122740	broad.mit.edu	37	14	20483272	20483272	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:20483272G>A	uc010tky.2	-	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAATATAAAGAAAAAATTTT	0.423000														14			6		0	0	0.001168	0	0
RASSF6	166824	broad.mit.edu	37	4	74450947	74450947	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:74450947C>T	uc003hhd.1	-	5	736	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	RASSF6_uc003hhc.1_Missense_Mutation_p.E173K|RASSF6_uc010iik.1_Missense_Mutation_p.E173K|RASSF6_uc010iil.1_Missense_Mutation_p.E161K	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	205					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTGTCTTTCTTTTCTGTCC	0.383000														48			24		0	0	0.002780	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307923	39307923	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:39307923G>A	uc021wwc.1	-	1	214	c.174C>T	c.(172-174)atC>atT	p.I58I	CX3CR1_uc021wwa.1_Silent_p.I26I|CX3CR1_uc021wwb.1_Silent_p.I26I|CX3CR1_uc003cjl.3_Silent_p.I26I|CX3CR1_uc021wwd.1_Silent_p.I26I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	26					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAAAGACCACGATGTCCCCAA	0.473000														22			10		0	0	0.006214	0	0
DISC1	27185	broad.mit.edu	37	1	231829908	231829908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:231829908C>T	uc010pxh.2	+	1	457	c.404C>T	c.(403-405)cCg>cTg	p.P135L	DISC1_uc010pwe.2_Missense_Mutation_p.P90L|DISC1_uc010pwf.2_Missense_Mutation_p.P90L|DISC1_uc010pwj.1_Missense_Mutation_p.P124L|DISC1_uc010pwk.1_Missense_Mutation_p.P124L|DISC1_uc010pwg.1_Missense_Mutation_p.P124L|DISC1_uc010pwh.1_Missense_Mutation_p.P90L|DISC1_uc010pwi.1_Missense_Mutation_p.P90L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.P135L|DISC1_uc010pwo.2_Missense_Mutation_p.P135L|DISC1_uc010pwq.2_Missense_Mutation_p.P135L|DISC1_uc010pwr.1_Missense_Mutation_p.P135L|DISC1_uc010pws.1_Missense_Mutation_p.P135L|DISC1_uc010pwt.1_Missense_Mutation_p.P135L|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.P135L|DISC1_uc001huy.3_Missense_Mutation_p.P135L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.P135L|DISC1_uc010pxc.1_Missense_Mutation_p.P135L|DISC1_uc010pxe.2_Missense_Mutation_p.P135L|DISC1_uc010pxf.2_Missense_Mutation_p.P135L|DISC1_uc010pxg.2_Missense_Mutation_p.P135L|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.P90L|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.P135L|DISC1_uc001huz.3_Missense_Mutation_p.P135L|DISC1_uc001hva.3_Missense_Mutation_p.P135L|DISC1_uc010pwm.2_Missense_Mutation_p.P135L|DISC1_uc001hvc.3_Missense_Mutation_p.P135L|DISC1_uc010pwn.1_Missense_Mutation_p.P135L|DISC1_uc021pkn.1_Missense_Mutation_p.P135L|DISC1_uc001hux.1_Missense_Mutation_p.P135L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	135	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTAGCTGGCCGTGTGGCCCT	0.612000														17			9		0	0	0.004482	0	0
CTTN	2017	broad.mit.edu	37	11	70265858	70265858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:70265858C>T	uc001opv.4	+	8	781	c.575C>T	c.(574-576)tCc>tTc	p.S192F	CTTN_uc001opu.3_Missense_Mutation_p.S192F|CTTN_uc001opw.4_Missense_Mutation_p.S192F|CTTN_uc010rqm.2_5'Flank|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	192						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTAGATTACTCCAAAGGTTTC	0.388000														21			6		0	0	0.001168	0	0
ALPK1	80216	broad.mit.edu	37	4	113353293	113353293	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:113353293C>T	uc003ian.4	+	10	2817	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	ALPK1_uc003iap.4_Missense_Mutation_p.P864S|ALPK1_uc011cfx.2_Missense_Mutation_p.P786S|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P692S	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	864							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATGGATGTTCCCTGCACAAA	0.577000														27			5		0	0	0.000602	0	0
TMEM131	23505	broad.mit.edu	37	2	98427651	98427651	+	Silent	SNP	A	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:98427651A>G	uc002syh.4	-	17	2137	c.1908T>C	c.(1906-1908)ctT>ctC	p.L636L		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	636						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTTTGCAGTAAGTTTGACTC	0.388000														138			59		0	0	0.003610	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358482	99358482	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:99358482C>T	uc001vno.3	-	15	1252	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	392					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GACTTCGTTTCCTTTGGGGAA	0.388000														15			7		0	0	0.003080	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982865	131982865	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:131982865G>A	uc003vra.4	-	3	1717	c.1488C>T	c.(1486-1488)atC>atT	p.I496I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	496	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTCTGACATGATGTAGAGTT	0.572000														91			16		0	0	0.006122	0	0
SPEF2	79925	broad.mit.edu	37	5	35628589	35628589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:35628589C>T	uc003jjo.3	+	1	197	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SPEF2_uc003jjn.1_Missense_Mutation_p.S29F|SPEF2_uc003jjq.4_Missense_Mutation_p.S29F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	29	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGCATTTTCCAGTGGCTAT	0.348000														46			16		0	0	0.004990	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142776	103142776	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:103142776G>A	uc002tbz.4	+	10	2466	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	670					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTCTGCAGGAAGAGACACA	0.532000														31			20		0	0	0.001882	0	0
NHS	4810	broad.mit.edu	37	X	17744574	17744574	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:17744574G>A	uc011mix.2	+	6	2686	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	NHS_uc004cxx.3_Missense_Mutation_p.G762E|NHS_uc004cxy.3_Missense_Mutation_p.G606E|NHS_uc004cxz.3_Missense_Mutation_p.G585E|NHS_uc004cya.3_Missense_Mutation_p.G485E	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	762						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GACACGGAAGGATACTATACC	0.493000														76			23		0	0	0.002299	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300603	110300603	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:110300603C>T	uc001dyr.2	-	8	1020	c.795G>A	c.(793-795)agG>agA	p.R265R	EPS8L3_uc001dys.2_Silent_p.R265R|EPS8L3_uc001dyq.2_Silent_p.R266R|EPS8L3_uc009wfm.2_Silent_p.R232R|EPS8L3_uc009wfn.2_Silent_p.R240R|EPS8L3_uc009wfo.2_Silent_p.R212R	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	265						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ATTTCTTCTTCCTGCTGGTCT	0.547000														56			21		0	0	0.003330	0	0
IFT74	80173	broad.mit.edu	37	9	27029056	27029056	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:27029056T>A	uc010mja.3	+	12	1135	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	IFT74_uc010mjb.3_Missense_Mutation_p.F336L|IFT74_uc003zqf.4_Missense_Mutation_p.F336L|IFT74_uc003zqg.4_Missense_Mutation_p.F336L	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	336						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		p.F336S(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAATCAGTTTATTGAAGAAA	0.269000														18			13		0	0	0.004007	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869662	151869662	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:151869662C>T	uc022chf.1	+	0	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MAGEA6_uc004ffq.1_Missense_Mutation_p.H118Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.H118Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	118	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGTTGGTTCATTTTCTGCT	0.532000														89			39		0	0	0.003214	0	0
CRP	1401	broad.mit.edu	37	1	159683493	159683493	+	Missense_Mutation	SNP	C	T	T	rs34340208	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:159683493C>T	uc001ftw.3	-	1	601	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	166	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGACTGGCTTCCTTCAAAGTT	0.527000														123			68		0	0	0.003610	0	0
KAT6A	7994	broad.mit.edu	37	8	41832293	41832293	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:41832293A>G	uc010lxb.3	-	8	1955	c.1411T>C	c.(1411-1413)Ttt>Ctt	p.F471L	KAT6A_uc010lxc.3_Missense_Mutation_p.F471L|KAT6A_uc003xon.4_Missense_Mutation_p.F471L|KAT6A_uc010lxd.3_Missense_Mutation_p.F471L	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	471	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGGCTCCCAAAAAGTCGCTCC	0.388000														39			12		0	0	0.000978	0	0
NUMBL	9253	broad.mit.edu	37	19	41174022	41174022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:41174022G>A	uc002oon.3	-	9	1349	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	NUMBL_uc010xvq.2_Missense_Mutation_p.P353L|NUMBL_uc010xvr.2_Missense_Mutation_p.P353L|NUMBL_uc002ooo.3_Missense_Mutation_p.P393L	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	394					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGGCACGGAGGGCTCACCCCA	0.657000														13			4		0	0	0.000248	0	0
OR5L2	26338	broad.mit.edu	37	11	55595549	55595549	+	Silent	SNP	G	A	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:55595549G>A	uc001nhy.1	+	0	855	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285L(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCCATGCTGAACCCCCTGA	0.443000										HNSCC(27;0.073)				18			5		0	0	0.001168	0	0
POF1B	79983	broad.mit.edu	37	X	84614582	84614582	+	Silent	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:84614582C>T	uc004eer.2	-	3	557	c.411G>A	c.(409-411)agG>agA	p.R137R	POF1B_uc004ees.3_Silent_p.R137R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	137							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTACATATTTCCTAATAGTGG	0.308000														47			21		0	0	0.003330	0	0
TBL3	10607	broad.mit.edu	37	16	2025386	2025386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:2025386C>T	uc002cnu.1	+	8	854	c.752C>T	c.(751-753)tCc>tTc	p.S251F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.S137F|TBL3_uc010bsc.1_Missense_Mutation_p.S137F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	251					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAGCCAGTGTCCCAGCTGGGT	0.637000														62			25		0	0	0.006320	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119805588	119805588	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:119805588delG	uc001ldj.2	-	0	527	c.87delC	c.(85-87)ggcfs	p.G29fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.G29fs|CASC2_uc001ldm.4_5'Flank|CASC2_uc009xzc.3_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xzb.3_5'Flank|CASC2_uc009xza.3_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	29	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TACCACTTTTGCCTTTTGGCT	0.488													---	147	---	---	39	---					
DPY19L2	283417	broad.mit.edu	37	12	63994127	63994134	+	Frame_Shift_Del	DEL	AAATGATT	-	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:63994127_63994134delAAATGATT	uc001srp.1	-	12	1492_1499	c.1311_1318delAATCATTT	c.(1309-1320)acaatcattttgfs	p.T437fs	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	437					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGAAATTTCAAAATGATTGTTCCACACC	0.312													---	57	---	---	12	---					
MFAP4	4239	broad.mit.edu	37	17	19290122	19290123	+	In_Frame_Ins	INS	-	AGC	AGC			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:19290122_19290123insAGC	uc002gvs.3	-	1	208_209	c.107_108insGCT	c.(106-108)ctt>ctGCTt	p.36_36L>LL	MFAP4_uc002gvt.3_In_Frame_Ins_p.12_12L>LL	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	12	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCGTGGAGAGAAGCAGCAGCAG	0.649													---	4	---	---	3	---					
SMCHD1	23347	broad.mit.edu	37	18	2688685	2688685	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:2688685delT	uc002klm.4	+	6	1002	c.813delT	c.(811-813)gatfs	p.D271fs		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	271					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTAAAGAAGATTTTGAGAAGA	0.279													---	4	---	---	2	---					
PRR12	57479	broad.mit.edu	37	19	50101123	50101123	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:50101123delC	uc002poo.4	+	3	3531	c.3531delC	c.(3529-3531)cgcfs	p.R1177fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	356							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCGGATCCGCCCCCTGGAGG	0.771													---	4	---	---	2	---					
FPR1	2357	broad.mit.edu	37	19	52249827	52249839	+	Frame_Shift_Del	DEL	GGCTCACGGTGCG	-	-	rs151277630	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:52249827_52249839delGGCTCACGGTGCG	uc021uyn.1	-	2	555_567	c.409_421delCGCACCGTGAGCC	c.(409-423)cgcaccgtgagcctgfs	p.R137fs	FPR1_uc002pxq.3_Frame_Shift_Del_p.R137fs|FPR1_uc021uyo.1_Frame_Shift_Del_p.R137fs	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	137					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L141Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TTCTTGGCCAGGCTCACGGTGCGGTGGTTCTGG	0.545													---	37	---	---	7	---