Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANK3	288	broad.mit.edu	37	10	61932940	61932940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:61932940C>T	ENST00000280772.1	-	19	2380	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ANK3_ENST00000373827.2_Missense_Mutation_p.G724E|ANK3_ENST00000503366.1_Missense_Mutation_p.G713E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	730					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						TGGTGTGTATCCCATCTGtaa	0.328000													14	1					0	0	0.002450	0	0
DET1	55070	broad.mit.edu	37	15	89074080	89074080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:89074080G>A	ENST00000564406.1	-	3	1050	c.890C>T	c.(889-891)cCc>cTc	p.P297L	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000444300.1_Missense_Mutation_p.P297L|DET1_ENST00000268148.8_Missense_Mutation_p.P286L	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	286						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATCCCTAAAGGGATTGGCCAT	0.542000													10	8					0	0	0.001855	0	0
TC2N	123036	broad.mit.edu	37	14	92278779	92278779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:92278779C>T	ENST00000435962.2	-	3	501	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TC2N_ENST00000360594.5_Missense_Mutation_p.D60N|TC2N_ENST00000340892.5_Missense_Mutation_p.D60N|TC2N_ENST00000556018.1_Missense_Mutation_p.D60N	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	60				D -> G (in Ref. 1; BAC86538).		nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGCAAATAATCCTCAGTACAG	0.398000													6	7					0	0	0.001168	0	0
LAD1	3898	broad.mit.edu	37	1	201355974	201355974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201355974C>T	ENST00000391967.2	-	3	816	c.515G>A	c.(514-516)gGg>gAg	p.G172E	LAD1_ENST00000367313.3_Missense_Mutation_p.G186E	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	172						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTGGAACCCCTTTCTTCCT	0.582000													47	57					0	0	0.002852	0	0
KRT5	3852	broad.mit.edu	37	12	52913684	52913684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:52913684G>A	ENST00000252242.4	-	1	787	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	133	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCAGACAGGAAAGCCAGGG	0.612000													22	26					0	0	0.001882	0	0
FRMD7	90167	broad.mit.edu	37	X	131212560	131212560	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:131212560G>A	ENST00000298542.4	-	12	1660	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	FRMD7_ENST00000464296.1_Silent_p.V480V|FRMD7_ENST00000370879.1_Silent_p.V375V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	495					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CATAAAAAAAGACCTGGGGAG	0.502000													20	4					0	0	0.007413	0	0
POGZ	23126	broad.mit.edu	37	1	151381186	151381186	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:151381186A>C	ENST00000271715.2	-	13	2359	c.2045T>G	c.(2044-2046)tTg>tGg	p.L682W	POGZ_ENST00000540984.1_Missense_Mutation_p.L44W|POGZ_ENST00000531094.1_Missense_Mutation_p.L620W|POGZ_ENST00000491586.1_Missense_Mutation_p.L638W|POGZ_ENST00000409503.1_Missense_Mutation_p.L673W|POGZ_ENST00000392723.1_Missense_Mutation_p.L629W|POGZ_ENST00000368863.2_Missense_Mutation_p.L587W|POGZ_ENST00000361398.3_Missense_Mutation_p.L629W	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	682					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTGGTTTCAAGCCCTCCAG	0.453000													46	274					0	0	0.003610	0	0
RABL2A	11159	broad.mit.edu	37	2	114398488	114398488	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:114398488G>A	ENST00000409875.1	+	7	617	c.315G>A	c.(313-315)agG>agA	p.R105R	RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.R105R|RABL2A_ENST00000393166.3_Silent_p.R105R|RABL2A_ENST00000393167.3_Silent_p.R105R			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	105					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						ATATACAGAGGAAAGTCACCT	0.498000													32	36					0	0	0.004878	0	0
GPR98	84059	broad.mit.edu	37	5	89940622	89940622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:89940622G>A	ENST00000405460.2	+	15	2930	c.2834G>A	c.(2833-2835)gGg>gAg	p.G945E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	945	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGTACAAGGGACTGTTGTC	0.373000													23	24					0	0	0.002299	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292000	89292000	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:89292000G>A	ENST00000495489.1	-	0	325																											TGGTGAGAGTGAAATCTGTCC	0.463000													23	31					0	0	0.004656	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892289	90892289	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:90892289C>T	ENST00000412799.2	-	1	380	c.141G>A	c.(139-141)agG>agA	p.R47R																								CTAGGTACTTCCTCCTGTCCA	0.498000													6	17					0	0	0.001168	0	0
ADH1C	126	broad.mit.edu	37	4	100268181	100268181	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:100268181C>T	ENST00000515683.1	-	0	592				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTGTAGTCACCCCTTCTCAA	0.512000													35	10					0	0	0.003610	0	0
FSCN1	6624	broad.mit.edu	37	7	5642960	5642960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:5642960C>T	ENST00000382361.3	+	2	1019	c.905C>T	c.(904-906)aCc>aTc	p.T302I	FSCN1_ENST00000340250.6_Missense_Mutation_p.T281I	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	302					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GACCGCGACACCAAAAAGTGT	0.632000													26	40					0	0	0.006320	0	0
OR10C1	442194	broad.mit.edu	37	6	29407980	29407980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:29407980G>A	ENST00000444197.2	+	1	898	c.188G>A	c.(187-189)cGc>cAc	p.R63H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTTCCTGCGCACCCTCTCG	0.567000													29	236					0	0	0.002096	0	0
FAM71A	149647	broad.mit.edu	37	1	212798417	212798417	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:212798417C>T	ENST00000294829.3	+	1	629	c.198C>T	c.(196-198)gtC>gtT	p.V66V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	66										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACAACCGTGTCCGTATGGTGA	0.527000													44	65					0	0	0.003610	0	0
MARC1	64757	broad.mit.edu	37	1	220978453	220978453	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:220978453C>T	ENST00000366910.5	+	5	999	c.813C>T	c.(811-813)tcC>tcT	p.S271S	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	271	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGGCTTGTTCCAGGTAAGGTG	0.512000													44	34					0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095746	167095746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167095746C>T	ENST00000361200.2	+	6	1544	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P460S|DUSP27_ENST00000443333.1_Missense_Mutation_p.P460S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	460					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGAACCGCCCGGACCACGG	0.682000													7	12					0	0	0.004482	0	0
OR11H1	81061	broad.mit.edu	37	22	16449672	16449672	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:16449672G>C	ENST00000252835.4	-	1	133	c.133C>G	c.(133-135)Ctc>Gtc	p.L45V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTAGTAAAGAGTGAGAAGAGG	0.418000													6	19					0	0	0.003080	0	0
H6PD	9563	broad.mit.edu	37	1	9324505	9324505	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:9324505C>T	ENST00000377403.2	+	5	2255	c.1953C>T	c.(1951-1953)atC>atT	p.I651I	H6PD_ENST00000602477.1_Silent_p.I662I	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	651	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACTACAACATCCACCCCATGC	0.652000													47	35					0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50531118	50531118	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:50531118C>T	ENST00000374144.3	+	3	816	c.528C>T	c.(526-528)ttC>ttT	p.F176F	C10orf71_ENST00000323868.4_Silent_p.F176F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	176								p.F176F(2)		endometrium(1)	1						CTCCCAAATTCGCTCCTCTTC	0.502000													16	6					0	0	0.006122	0	0
IMMT	10989	broad.mit.edu	37	2	86406557	86406557	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:86406557G>A	ENST00000410111.3	-	3	695	c.309_splice	c.e3+1	p.S103_splice	IMMT_ENST00000254636.5_Splice_Site_p.S16_splice|IMMT_ENST00000449247.2_Splice_Site_p.S103_splice|IMMT_ENST00000442664.2_Splice_Site_p.S103_splice|IMMT_ENST00000409051.2_Splice_Site_p.S103_splice	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	103						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACTCTTACCGATTTCTTTGG	0.343000													12	22					0	0	0.001368	0	0
MYT1L	23040	broad.mit.edu	37	2	1926472	1926472	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:1926472T>G	ENST00000399161.2	-	10	1816	c.1069A>C	c.(1069-1071)Atc>Ctc	p.I357L	MYT1L_ENST00000428368.2_Missense_Mutation_p.I357L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	357					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCTGACGGATGTTCATGTTC	0.572000													8	20					0	0	0.003080	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596225	173596225	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:173596225C>T	ENST00000333279.2	-	4	630	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	206										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TAAGGAGTTTCCCTGATCCCT	0.353000													26	30					0	0	0.001786	0	0
FBN2	2201	broad.mit.edu	37	5	127728875	127728875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:127728875C>T	ENST00000508053.1	-	16	2392	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	FBN2_ENST00000508989.1_Missense_Mutation_p.G440E|FBN2_ENST00000262464.4_Missense_Mutation_p.G473E			P35556	FBN2_HUMAN	fibrillin 2	473					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACCGGCTCCCCCAACGCC	0.562000													18	34					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228520606	228520606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228520606C>T	ENST00000570156.2	+	68	18643	c.18569C>T	c.(18568-18570)tCa>tTa	p.S6190L	OBSCN_ENST00000422127.1_Missense_Mutation_p.S5233L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2352L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S2867L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S5233L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5233	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGAGTCCTCATCCTACTTC	0.617000													6	14					0	0	0.001984	0	0
LEO1	123169	broad.mit.edu	37	15	52258202	52258202	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:52258202C>T	ENST00000299601.5	-	2	618	c.558G>A	c.(556-558)caG>caA	p.Q186Q	LEO1_ENST00000315141.5_Silent_p.Q186Q	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	186	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CATCTGTGTTCTGCATTTTCT	0.438000													97	157					0	0	0.003610	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554422	140554422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140554422C>T	ENST00000231137.3	+	1	2180	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCGG	0.692000													42	187					0	0	0.007835	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771142	150771142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:150771142C>T	ENST00000485713.1	+	17	3592	c.2552C>T	c.(2551-2553)cCc>cTc	p.P851L	SLC4A2_ENST00000310317.5_Missense_Mutation_p.P769L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.P851L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P837L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P842L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	851	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGAGCACCCCCTGCATGGC	0.642000													38	38					0	0	0.002522	0	0
CPSF3L	54973	broad.mit.edu	37	1	1247737	1247737	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:1247737C>T	ENST00000540437.1	-	17	1949	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	CPSF3L_ENST00000421495.2_Silent_p.L234L|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Silent_p.L463L|CPSF3L_ENST00000411962.1_Silent_p.L394L|CPSF3L_ENST00000450926.2_Silent_p.L470L|CPSF3L_ENST00000435064.1_Silent_p.L492L|CPSF3L_ENST00000419704.1_Silent_p.L391L	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	492						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CTGAGGACACCAGCCGGAAGT	0.637000													7	3					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82544364	82544364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:82544364G>A	ENST00000423517.2	-	7	13275	c.12938C>T	c.(12937-12939)tCc>tTc	p.S4313F	PCLO_ENST00000437081.1_Missense_Mutation_p.S1033F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4313F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4244					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGTCTTAGGGAAGAGCTAGA	0.453000													3	5					0	0	0.004672	0	0
AKAP4	8852	broad.mit.edu	37	X	49958743	49958743	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:49958743G>A	ENST00000376056.2	-	5	744	c.594C>T	c.(592-594)tcC>tcT	p.S198S	AKAP4_ENST00000376064.3_Silent_p.S198S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.S207S|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	207					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTCCATCAGGGGAAATGACTG	0.448000													44	9					0	0	0.003610	0	0
MSLNL	401827	broad.mit.edu	37	16	830190	830190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:830190C>T	ENST00000293892.3	-	3	810	c.811G>A	c.(811-813)Ggg>Agg	p.G271R	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	516					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GTGAGGGTCCCGGCGGGAGCA	0.677000													13	18					0	0	0.002450	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321465	27321465	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:27321465G>A	ENST00000407991.1	-	6	1103	c.495C>T	c.(493-495)ctC>ctT	p.L165L	CHRNA2_ENST00000520933.2_Silent_p.L165L|CHRNA2_ENST00000240132.2_Silent_p.L150L	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	165						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CCGTGGAGAAGAGGTGGGCCT	0.612000													15	14					0	0	0.004007	0	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:24509862G>A	ENST00000264463.4	-	7	1576	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)			22	26					0	0	0.003330	0	0
LLGL2	3993	broad.mit.edu	37	17	73552144	73552144	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73552144C>T	ENST00000392550.3	+	3	210	c.93C>T	c.(91-93)ttC>ttT	p.F31F	LLGL2_ENST00000577200.1_Silent_p.F31F|LLGL2_ENST00000578363.1_Silent_p.F31F|LLGL2_ENST00000375227.4_Silent_p.F31F|LLGL2_ENST00000167462.5_Silent_p.F31F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	31					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCATGGCTTCCCGCACCAGC	0.672000													30	21					0	0	0.004289	0	0
STAB2	55576	broad.mit.edu	37	12	104031812	104031812	+	Missense_Mutation	SNP	G	G	A	rs115145720	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:104031812G>A	ENST00000388887.2	+	8	932	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	243	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGTTTACGAAAAATCTGC	0.493000													45	73					0	0	0.003610	0	0
MROH9	80133	broad.mit.edu	37	1	170928613	170928613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:170928613C>T	ENST00000367759.4	+	5	317	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	MROH9_ENST00000367758.3_Missense_Mutation_p.P55S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CTTTGTGGATCCCTTACTGCA	0.323000													26	40					0	0	0.001786	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857935	9857935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:9857935C>T	ENST00000396573.2	-	14	3775	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1156K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1156K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E999K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1156K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1156K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1156					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAAGTTTTCACTGGGATCC	0.527000													15	26					0	0	0.003163	0	0
SERPING1	710	broad.mit.edu	37	11	57367645	57367645	+	Silent	SNP	C	C	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57367645C>G	ENST00000403558.1	+	2	813	c.447C>G	c.(445-447)acC>acG	p.T149T	SERPING1_ENST00000378323.4_Silent_p.T120T|SERPING1_ENST00000378324.2_Silent_p.T63T|SERPING1_ENST00000340687.6_Silent_p.T115T|SERPING1_ENST00000278407.4_Silent_p.T115T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	115					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						attctcctacccagcccacTA	0.562000													39	61					0	0	0.006999	0	0
WNK4	65266	broad.mit.edu	37	17	40932784	40932784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:40932784G>A	ENST00000246914.5	+	1	89	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	23					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGGCCCTGCGGCCCCCGCCT	0.726000													20	16					0	0	0.002299	0	0
SOX6	55553	broad.mit.edu	37	11	16036519	16036519	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:16036519G>A	ENST00000352083.6	-	13	1778	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	SOX6_ENST00000527619.1_Silent_p.V543V|SOX6_ENST00000316399.6_Silent_p.V567V|SOX6_ENST00000396356.3_Silent_p.V567V|SOX6_ENST00000528429.1_Silent_p.V567V|SOX6_ENST00000528252.1_Silent_p.V540V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	567					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAAGGTCGATGACACCTGGGC	0.468000													4	4					0	0	0.000248	0	0
VARS	7407	broad.mit.edu	37	6	31748828	31748828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31748828G>A	ENST00000375663.3	-	22	3057	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	873					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACGTCCAGGGGATCGATGACA	0.622000													103	444					0	0	0.003610	0	0
ILDR2	387597	broad.mit.edu	37	1	166888544	166888544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:166888544C>T	ENST00000469934.2	-	9	1508	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR			Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	0						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGTCTTGTCCCCGTAGTCCAT	0.478000													8	5					0	0	0.003080	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629208	80629208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:80629208C>T	ENST00000369816.4	-	5	898	c.598G>A	c.(598-600)Ggg>Agg	p.G200R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	200					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GCAGTTAACCCATAGTATGAG	0.348000													15	27					0	0	0.004007	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713621	138713621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:138713621G>A	ENST00000275766.1	-	3	598	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	196								p.S196Y(1)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCACAAAGGATTTGCACAC	0.443000													24	26					0	0	0.003954	0	0
BRCA1	672	broad.mit.edu	37	17	41246344	41246344	+	Missense_Mutation	SNP	C	C	T	rs80357859		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:41246344C>T	ENST00000309486.4	-	9	1343	c.316G>A	c.(316-318)Gag>Aag	p.E106K	BRCA1_ENST00000354071.3_Missense_Mutation_p.E402K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E402K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E355K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E402K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E402K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	402					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATTCAGACTCCCCATCATGT	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			27	34					0	0	0.005443	0	0
DNAH1	25981	broad.mit.edu	37	3	52365207	52365207	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52365207C>T	ENST00000420323.2	+	7	1176	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	305	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCGAGGTCGGCGTCCTGG	0.582000													5	4					0	0	0.000602	0	0
CERKL	375298	broad.mit.edu	37	2	182403827	182403827	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:182403827G>A	ENST00000410087.3	-	12	1630	c.1530C>T	c.(1528-1530)gtC>gtT	p.V510V	CERKL_ENST00000409440.3_Silent_p.V492V|CERKL_ENST00000374969.2_Silent_p.V397V|CERKL_ENST00000339098.5_Silent_p.V536V|CERKL_ENST00000374970.2_Silent_p.V441V	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|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)			ACCTAATATGGACCTCTGATG	0.383000													10	26					0	0	0.001855	0	0
PARP14	54625	broad.mit.edu	37	3	122419491	122419491	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:122419491T>A	ENST00000474629.2	+	6	2356	c.2090T>A	c.(2089-2091)aTa>aAa	p.I697K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGCCAAAGATAAAGAAGGTA	0.363000													6	9					0	0	0.001984	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192188	125192188	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:125192188C>T	ENST00000431078.1	+	5	1021	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGTCCTGTTCCATGGAGAAG	0.502000													12	10					0	0	0.000978	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692384	189692384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:189692384G>A	ENST00000319332.5	-	9	1612	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.S291L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	472					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTTCTTCCGACAGGACGTT	0.572000													25	21					0	0	0.004656	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540241	169540241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:169540241G>A	ENST00000340806.6	+	1	532	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	178										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAACCAGTTTGAAGTTTTCCC	0.512000													37	41					0	0	0.004289	0	0
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517000									Ichthyosis				21	17					0	0	0.001523	0	0
C17orf74	201243	broad.mit.edu	37	17	7330298	7330298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:7330298C>T	ENST00000333870.3	+	3	1062	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	330						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTCGGTGTCCCGGAACGCCCG	0.692000													8	3					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141805690	141805690	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141805690G>A	ENST00000475668.2	+	71	8315	c.8261G>A	c.(8260-8262)tGa>tAa	p.*2754*	MGAM_ENST00000549489.2_Silent_p.*1858*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	0					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)	AGCACTCTGTGAATTTTTACA	0.328000													33	52					0	0	0.006230	0	0
GPR31	2853	broad.mit.edu	37	6	167571230	167571230	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:167571230C>T	ENST00000366834.1	-	1	587	c.90G>A	c.(88-90)ctG>ctA	p.L30L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	30						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCGCGTTGCCCAGCAGACCCA	0.652000													12	17					0	0	0.001855	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669673	131669673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:131669673C>T	ENST00000259324.5	+	3	753	c.230C>T	c.(229-231)cCg>cTg	p.P77L	LRRC8A_ENST00000372600.4_Missense_Mutation_p.P77L|LRRC8A_ENST00000372599.3_Missense_Mutation_p.P77L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	77					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCCCCTGGCCCGGAGCCCACC	0.612000													17	30					0	0	0.004990	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339238	97339238	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:97339238C>T	ENST00000316149.7	-	3	349	c.270G>A	c.(268-270)ccG>ccA	p.P90P	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	90					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TGAATTCCTTCGGCTCTTGAC	0.338000													38	31					0	0	0.007835	0	0
CFL1	1072	broad.mit.edu	37	11	65622828	65622828	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:65622828G>A	ENST00000525451.2	-	5	1195	c.480C>T	c.(478-480)tcC>tcT	p.S160S	CFL1_ENST00000531407.1_Silent_p.S143S|CFL1_ENST00000524553.1_Silent_p.S143S|CFL1_ENST00000527344.1_Silent_p.S143S|CFL1_ENST00000531413.1_Silent_p.S143S|CFL1_ENST00000534769.1_Silent_p.S198S|CFL1_ENST00000308162.5_Silent_p.S160S			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	160					actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TGCCCTCCAGGGAGATGACGG	0.622000													43	20					0	0	0.003214	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878884	31878884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:31878884G>A	ENST00000253354.1	+	5	648	c.487G>A	c.(487-489)Ggg>Agg	p.G163R		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	163						extracellular space	lipid binding										CACCAGCCATGGGAGCCTGCG	0.637000													16	20					0	0	0.007413	0	0
HAND2	9464	broad.mit.edu	37	4	174450253	174450253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:174450253G>A	ENST00000359562.4	-	1	1127	c.188C>T	c.(187-189)tCc>tTc	p.S63F	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	63					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGGGCTGTAGGACAGGGCCAT	0.751000													6	2					0	0	0.003080	0	0
FMO1	2326	broad.mit.edu	37	1	171247897	171247897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:171247897C>T	ENST00000354841.4	+	4	645	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	FMO1_ENST00000367750.3_Missense_Mutation_p.H172Y|FMO1_ENST00000402921.2_Missense_Mutation_p.H109Y|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	172					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGTACTTTCATAGCCGGCA	0.383000													15	22					0	0	0.006122	0	0
CLDN14	23562	broad.mit.edu	37	21	37833796	37833796	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:37833796G>A	ENST00000399137.1	-	3	1064	c.198C>T	c.(196-198)atC>atT	p.I66I	CLDN14_ENST00000399139.1_Silent_p.I66I|CLDN14_ENST00000342108.2_Silent_p.I66I|CLDN14_ENST00000399135.1_Silent_p.I66I|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.I66I	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	66					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGGATCGGTAGATCTGGCACT	0.647000													18	28					0	0	0.006122	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514925	233514925	+	Missense_Mutation	SNP	G	G	A	rs76363344	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:233514925G>A	ENST00000366624.3	+	9	2434	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	MLK4_ENST00000366622.1_Missense_Mutation_p.G171R	NM_032435.2	NP_115811.2																					AGCTCTGTATGGGTGCACCGT	0.537000													12	25					0	0	0.001368	0	0
POGZ	23126	broad.mit.edu	37	1	151380947	151380947	+	Silent	SNP	A	A	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:151380947A>T	ENST00000271715.2	-	14	2486	c.2172T>A	c.(2170-2172)ccT>ccA	p.P724P	POGZ_ENST00000540984.1_Silent_p.P86P|POGZ_ENST00000531094.1_Silent_p.P662P|POGZ_ENST00000491586.1_Silent_p.P680P|POGZ_ENST00000409503.1_Silent_p.P715P|POGZ_ENST00000392723.1_Silent_p.P671P|POGZ_ENST00000368863.2_Silent_p.P629P|POGZ_ENST00000361398.3_Silent_p.P671P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	724					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGACAGGCAGAGGGTCCATTG	0.582000													11	27					0	0	0.000978	0	0
TEFM	79736	broad.mit.edu	37	17	29226322	29226322	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:29226322G>A	ENST00000581216.1	-	4	1569	c.948C>T	c.(946-948)ttC>ttT	p.F316F	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	316					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										CTGATGGGAAGAACACCCGAG	0.393000													53	51					0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39230032	39230032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39230032G>A	ENST00000340369.3	-	2	1133	c.905C>T	c.(904-906)cCc>cTc	p.P302L	XIRP1_ENST00000396251.1_Missense_Mutation_p.P302L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	302							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTGACGTCGGGCCGGGCCCC	0.637000													25	27					0	0	0.003330	0	0
PLCB1	23236	broad.mit.edu	37	20	8713998	8713998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:8713998G>A	ENST00000378641.3	+	19	2477	c.2002G>A	c.(2002-2004)Ggc>Agc	p.G668S	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G668S|PLCB1_ENST00000338037.6_Missense_Mutation_p.G668S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	668	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATTTACTGAAGGCATCGTAGA	0.398000													25	38					0	0	0.005443	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771143	150771143	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:150771143C>T	ENST00000485713.1	+	17	3593	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	SLC4A2_ENST00000310317.5_Silent_p.P769P|SLC4A2_ENST00000413384.2_Silent_p.P851P|SLC4A2_ENST00000461735.1_Silent_p.P837P|SLC4A2_ENST00000392826.2_Silent_p.P842P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	851	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGCACCCCCTGCATGGCT	0.642000													36	37					0	0	0.001951	0	0
PDE10A	10846	broad.mit.edu	37	6	165806224	165806224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:165806224G>A	ENST00000366882.1	-	17	1691	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P513S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P523S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	513					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTGTGATAAGGAACCCGCCGA	0.433000													17	33					0	0	0.001523	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696013	99696013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:99696013C>T	ENST00000370597.3	-	3	690	c.335G>A	c.(334-336)gGg>gAg	p.G112E	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G112E|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G112E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	112						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GATGGCGTTCCCCTGCCGGTC	0.637000													23	4					0	0	0.002780	0	0
TBR1	10716	broad.mit.edu	37	2	162274311	162274311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:162274311C>T	ENST00000389554.3	+	2	1134	c.817C>T	c.(817-819)Cct>Tct	p.P273S		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAAATGGGTTCCTTGCGGCAA	0.423000													35	41					0	0	0.002836	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555107	178555107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:178555107C>T	ENST00000251582.7	-	17	2571	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGTGTCTCCCACCGGGATG	0.577000													16	23					0	0	0.004990	0	0
MYO7B	4648	broad.mit.edu	37	2	128338359	128338359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:128338359G>A	ENST00000389524.4	+	10	1095	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E348K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E348K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	348	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGACGTGATGGAGACGCCCGC	0.597000													8	9					0	0	0.000978	0	0
ACOT11	26027	broad.mit.edu	37	1	55069586	55069586	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55069586C>T	ENST00000371316.3	+	11	1210	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.S376S	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	376	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGCCCCTCTCCGTCCCCTGGG	0.582000													28	69					0	0	0.002445	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953530	43953530	+	Silent	SNP	C	C	T	rs139893812		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:43953530C>T	ENST00000282406.4	+	17	2771	c.2661C>T	c.(2659-2661)atC>atT	p.I887I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	887	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTATACTATCGTTATCCATC	0.398000													105	115					0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125080030	125080030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125080030G>A	ENST00000522917.1	+	28	3907	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1234E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1234						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATCCCAAGGGAAAAAAAGGC	0.393000													3	4					0	0	0.000602	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356675	99356675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:99356675C>T	ENST00000376503.5	-	17	1339	c.1284G>A	c.(1282-1284)atG>atA	p.M428I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	428					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)	CATCAAAAGTCATAAATGCAT	0.438000													29	18					0	0	0.002445	0	0
PKP2	5318	broad.mit.edu	37	12	32994096	32994096	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:32994096G>A	ENST00000340811.4	-	6	1530	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	PKP2_ENST00000070846.6_Silent_p.L518L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	518					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTTATCATGAGATTCTTGA	0.438000													63	63					0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35065992	35065992	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:35065992G>C	ENST00000382002.5	-	10	1494	c.1068C>G	c.(1066-1068)agC>agG	p.S356R	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S255R|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S255R|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	356					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAGGGAAGGGCTGTCACAGC	0.498000													16	13					0	0	0.004007	0	0
ARPP21	10777	broad.mit.edu	37	3	35835378	35835378	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:35835378C>T	ENST00000187397.4	+	20	2823	c.2367C>T	c.(2365-2367)gtC>gtT	p.V789V	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Silent_p.V790V|ARPP21_ENST00000417925.1_Silent_p.V790V|ARPP21_ENST00000337271.5_Silent_p.V770V|ARPP21_ENST00000444190.1_Silent_p.V770V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	789						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGCACTGTCCCAGTGATGT	0.527000													7	8					0	0	0.001984	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175689	143175689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143175689C>T	ENST00000408916.1	+	1	724	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCCTCATTCTTTATGCTCT	0.512000													15	9					0	0	0.004990	0	0
BCAS3	54828	broad.mit.edu	37	17	59067552	59067552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:59067552C>T	ENST00000589222.1	+	15	1510	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	BCAS3_ENST00000585744.1_Missense_Mutation_p.P252L|BCAS3_ENST00000588462.1_Missense_Mutation_p.P481L|BCAS3_ENST00000390652.5_Missense_Mutation_p.P481L|BCAS3_ENST00000588874.1_Missense_Mutation_p.P252L|BCAS3_ENST00000407086.3_Missense_Mutation_p.P481L|BCAS3_ENST00000408905.3_Missense_Mutation_p.P481L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	481						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCTGTAGCCCTGTTCCAGGT	0.473000													26	13					0	0	0.002836	0	0
FER1L6	654463	broad.mit.edu	37	8	125076600	125076600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125076600C>T	ENST00000522917.1	+	26	3547	c.3341C>T	c.(3340-3342)tCg>tTg	p.S1114L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S1114L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1114						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATTTCAGATTCGCTAACAGCC	0.527000													27	26					0	0	0.006320	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45504055	45504055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:45504055C>T	ENST00000291574.4	+	15	2466	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	764					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCGGTGGGCTCCGTGTGGTTC	0.577000													10	18					0	0	0.000673	0	0
PNN	5411	broad.mit.edu	37	14	39650092	39650092	+	Silent	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:39650092T>C	ENST00000216832.4	+	9	1246	c.1179T>C	c.(1177-1179)gtT>gtC	p.V393V	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	393	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAGAGATGGTTGAGAATGTCA	0.418000													19	27					0	0	0.001523	0	0
ESYT3	83850	broad.mit.edu	37	3	138189764	138189764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:138189764C>T	ENST00000389567.4	+	17	1822	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	546						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGGAGGTCCCCCTGTGCCA	0.577000													97	136					0	0	0.003610	0	0
TNP2	7142	broad.mit.edu	37	16	11362926	11362926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:11362926G>A	ENST00000312693.3	-	1	263	c.194C>T	c.(193-195)tCa>tTa	p.S65L	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	65					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTGGCCGGATGAGCTGTGGGC	0.622000													76	117					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98565117	98565117	+	Silent	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:98565117C>A	ENST00000359863.4	+	50	7496	c.7287C>A	c.(7285-7287)acC>acA	p.T2429T	TRRAP_ENST00000355540.3_Silent_p.T2411T|TRRAP_ENST00000446306.3_Silent_p.T2411T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2429					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGATGAGACCCTCTCTGGCA	0.532000													29	38					1.08312e-15	2.05888e-15	0.001786	1	0
TAF1L	138474	broad.mit.edu	37	9	32633672	32633672	+	Missense_Mutation	SNP	G	G	A	rs144278499		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32633672G>A	ENST00000242310.4	-	1	1995	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	636					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAGGTGGGCGATGGAACTGC	0.478000													25	44					0	0	0.003330	0	0
TRHDE	29953	broad.mit.edu	37	12	72956724	72956724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:72956724G>A	ENST00000261180.4	+	9	1907	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	604					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATCTTGGGAAACACAACA	0.333000													71	73					0	0	0.003610	0	0
IFNA16	3449	broad.mit.edu	37	9	21217128	21217128	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:21217128G>A	ENST00000380216.1	-	1	182	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGGGGAATCCGAAATCATATC	0.502000													29	37					0	0	0.003271	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617666	111617666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:111617666G>A	ENST00000374667.3	-	1	1573	c.545C>T	c.(544-546)tCg>tTg	p.S182L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	182						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGACAGCAACGACTGGGACGT	0.647000													16	25					0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563858	176563858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:176563858G>A	ENST00000367662.3	+	3	2282	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G373E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	373					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTACGATGGACGGCACATG	0.572000													24	24					0	0	0.003330	0	0
RAVER1	125950	broad.mit.edu	37	19	10433948	10433948	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:10433948G>A	ENST00000293677.6	-	5	1083	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	317	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCGATTGAGGGCCTGCAGGA	0.677000													12	35					0	0	0.002450	0	0
RBM46	166863	broad.mit.edu	37	4	155719287	155719287	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:155719287A>T	ENST00000510397.1	+	3	655	c.476A>T	c.(475-477)gAt>gTt	p.D159V	RBM46_ENST00000281722.3_Missense_Mutation_p.D159V|RBM46_ENST00000514866.1_Missense_Mutation_p.D159V	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	159	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAATTTTAGATGAAATGAAG	0.343000													34	9					0	0	0.004289	0	0
SATB2	23314	broad.mit.edu	37	2	200213592	200213592	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:200213592G>A	ENST00000443023.1	-	6	2293	c.828C>T	c.(826-828)atC>atT	p.I276I	SATB2_ENST00000457245.1_Silent_p.I335I|SATB2_ENST00000428695.1_Silent_p.I217I|SATB2_ENST00000260926.5_Silent_p.I335I|SATB2_ENST00000417098.1_Silent_p.I335I			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	335						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTGCTGGTTGATGGCTTGAG	0.512000													12	18					0	0	0.001368	0	0
ATP7B	540	broad.mit.edu	37	13	52542667	52542667	+	Silent	SNP	G	G	A	rs145798966	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:52542667G>A	ENST00000242839.4	-	4	1776	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	ATP7B_ENST00000344297.5_Silent_p.L540L|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Silent_p.L540L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.L429L|ATP7B_ENST00000448424.2_Silent_p.L540L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	540	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GAGCTATCTCGAGGGGCTGGA	0.537000									Wilson disease				21	27					0	0	0.001882	0	0
SPATC1	375686	broad.mit.edu	37	8	145096185	145096185	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:145096185G>A	ENST00000377470.3	+	4	1461	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	453										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCCAGCTGGACCGCAGGA	0.617000													13	7					0	0	0.001368	0	0
F10	2159	broad.mit.edu	37	13	113803660	113803660	+	Silent	SNP	C	C	T	rs139031355		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:113803660C>T	ENST00000375559.3	+	8	1334	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	432	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTACTTCGTGACAGGCA	0.622000													22	44					0	0	0.001523	0	0
PTPN22	26191	broad.mit.edu	37	1	114372628	114372628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:114372628G>A	ENST00000359785.5	-	17	2212	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	PTPN22_ENST00000538253.1_Missense_Mutation_p.P449S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P638S|PTPN22_ENST00000525799.1_Missense_Mutation_p.P566S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P693S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	693					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GGAGGTGGGGGAGAAGAACGA	0.363000													48	41					0	0	0.003610	0	0
GRB14	2888	broad.mit.edu	37	2	165383593	165383593	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:165383593C>T	ENST00000263915.3	-	4	1072	c.534G>A	c.(532-534)ggG>ggA	p.G178G	GRB14_ENST00000543549.1_Silent_p.G91G	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	178	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTTCTATCCCCCAGTTGG	0.328000													27	43					0	0	0.007291	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691166	18691166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:18691166C>T	ENST00000433979.1	+	24	3393	c.3277C>T	c.(3277-3279)Caa>Taa	p.Q1093*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q1134*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q1093*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1093	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGCATTTTCAAGATTTTGT	0.398000													4	8					0	0	0.000248	0	0
HTR1E	3354	broad.mit.edu	37	6	87725481	87725481	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:87725481C>T	ENST00000305344.4	+	2	1132	c.429C>T	c.(427-429)atC>atT	p.I143I	HTR1E_ENST00000369584.1_Silent_p.I143I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	143					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I143I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CGCTGATGATCCTTACCGTCT	0.582000													23	27					0	0	0.002299	0	0
CDHR2	54825	broad.mit.edu	37	5	176004529	176004529	+	Missense_Mutation	SNP	G	G	A	rs114930966	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:176004529G>A	ENST00000510636.1	+	13	1598	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	CDHR2_ENST00000261944.5_Missense_Mutation_p.E442K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E442K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	442	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTGGACTACGAGAGGCAGAC	0.701000													13	15					0	0	0.001368	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576844	90576844	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:90576844C>T	ENST00000551025.1	+	0	5272							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACAGACATCCCAGCATGCAAC	0.458000													55	58					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166894589	166894589	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:166894589C>T	ENST00000423058.2	-	15	2660	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	SCN1A_ENST00000409050.1_Silent_p.K853K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.K881K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K870K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	881						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCGATGATCTTTATTAGCA	0.398000													28	29					0	0	0.007291	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162886	33162886	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:33162886G>A	ENST00000510327.1	-	0	346																											TCTATCTTAGGAAAATCAAGG	0.468000													10	15					0	0	0.001368	0	0
TRBV9	28586	broad.mit.edu	37	7	142239570	142239570	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142239570C>T	ENST00000390363.2	-	0	356																											AAAGCTGAGTCCCCCAGCTCC	0.512000													9	32					0	0	0.001368	0	0
DSC1	1823	broad.mit.edu	37	18	28723636	28723636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28723636G>A	ENST00000257197.3	-	8	1319	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S353F	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	353	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTGTGAAAGATGGTGGATT	0.348000													28	40					0	0	0.003755	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869271	47869271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:47869271G>A	ENST00000396105.1	-	12	3448	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1068C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1068C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1068							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAATTCAGACGGACAAAGGGA	0.502000													48	66					0	0	0.003610	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885199	50885199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:50885199G>A	ENST00000404795.3	-	3	1159	c.767C>T	c.(766-768)tCc>tTc	p.S256F	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S256F	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	256	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						TGCCTCTTTGGAGGCCCGAGC	0.721000													6	6					0	0	0.001168	0	0
ZNF480	147657	broad.mit.edu	37	19	52825107	52825107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52825107C>T	ENST00000595962.1	+	5	670	c.604C>T	c.(604-606)Cct>Tct	p.P202S	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.P125S|ZNF480_ENST00000334564.7_Missense_Mutation_p.P159S	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TAGAGAAAAACCTTATGAATG	0.338000													14	24					0	0	0.003163	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590456	1590456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:1590456C>T	ENST00000297477.5	-	3	698	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	128						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGCCCACCTTCGTAGCAGTCC	0.662000													19	27					0	0	0.003330	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390600	61390600	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:61390600G>A	ENST00000544088.1	+	0	1208				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATACCAACACGATCCTATTCT	0.502000													10	13					0	0	0.000673	0	0
OASL	8638	broad.mit.edu	37	12	121471506	121471506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:121471506C>T	ENST00000257570.5	-	2	509	c.239G>A	c.(238-240)aGa>aAa	p.R80K	OASL_ENST00000339275.5_Missense_Mutation_p.R80K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	80					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACCTCTCTGGTGCTCCT	0.587000													102	150					0	0	0.003610	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911184	230911184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:230911184C>T	ENST00000295190.4	-	4	1116	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	220						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTCCTGGGTCGTTTGGGTTT	0.552000													28	34					0	0	0.007291	0	0
BMP5	653	broad.mit.edu	37	6	55625290	55625290	+	Missense_Mutation	SNP	C	C	T	rs147691986		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:55625290C>T	ENST00000370830.3	-	5	1767	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	BMP5_ENST00000446683.2_Missense_Mutation_p.E357K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	357					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATAGAGTTCGTGCTTCTTA	0.348000													15	51					0	0	0.004007	0	0
ZNF17	7565	broad.mit.edu	37	19	57932560	57932560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:57932560C>T	ENST00000307658.7	+	4	1969	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	ZNF17_ENST00000601808.1_Missense_Mutation_p.S567F|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGCCAAAATTCCCACCTCATT	0.398000													16	30					0	0	0.004990	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976088	29976088	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:29976088G>A	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA																							GGGAGGACCAGACCCAGGACA	0.597000													24	48					0	0	0.006320	0	0
MYOM2	9172	broad.mit.edu	37	8	2044253	2044253	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:2044253C>T	ENST00000262113.4	+	18	2433	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	MYOM2_ENST00000523438.1_Silent_p.P189P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	764	Fibronectin type-III 4.				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)		ATTCCTCACCCAGCAAACCGA	0.473000													10	31					0	0	0.000673	0	0
FASLG	356	broad.mit.edu	37	1	172633494	172633494	+	Missense_Mutation	SNP	G	G	A	rs35774809		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:172633494G>A	ENST00000367721.2	+	3	599	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FASLG_ENST00000340030.3_Silent_p.L123L	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	139					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCCACCCCCTGAAAAAAAGGA	0.408000													19	19					0	0	0.001523	0	0
RRM1	6240	broad.mit.edu	37	11	4156462	4156462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4156462G>A	ENST00000300738.5	+	18	2356	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	RRM1_ENST00000537197.1_Missense_Mutation_p.G380S|RRM1_ENST00000534285.1_Missense_Mutation_p.G496S|RRM1_ENST00000423050.2_Missense_Mutation_p.G621S	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	718					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GCCTAACTATGGCAAACTCAC	0.423000													32	36					0	0	0.003755	0	0
KCNN3	3782	broad.mit.edu	37	1	154794621	154794621	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:154794621G>A	ENST00000271915.3	-	2	1288	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	KCNN3_ENST00000358505.2_Silent_p.L12L|KCNN3_ENST00000361147.4_Silent_p.L20L	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	330						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGTGGACAGACTGATAAGG	0.522000													34	33					0	0	0.003610	0	0
TRIM67	440730	broad.mit.edu	37	1	231335978	231335978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:231335978G>A	ENST00000444294.3	+	4	2206	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	TRIM67_ENST00000366652.2_Missense_Mutation_p.E450K|TRIM67_ENST00000366653.5_Missense_Mutation_p.E450K|TRIM67_ENST00000449018.3_Missense_Mutation_p.E388K	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	450	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGTGATCAAGGAGAACGACCC	0.537000													46	52					0	0	0.003610	0	0
KTN1	3895	broad.mit.edu	37	14	56078982	56078982	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:56078982C>T	ENST00000416613.1	+	1	288	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KTN1_ENST00000395309.3_Silent_p.L72L|KTN1_ENST00000395314.3_Silent_p.L72L|KTN1_ENST00000438792.2_Silent_p.L72L|KTN1_ENST00000413890.2_Silent_p.L72L|KTN1_ENST00000395311.1_Silent_p.L72L|KTN1_ENST00000395308.1_Silent_p.L72L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	72					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGAAACCTCCATGAATCCG	0.358000			T	RET	papillary thryoid								9	13					0	0	0.006214	0	0
DUSP27	92235	broad.mit.edu	37	1	167097079	167097079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167097079C>T	ENST00000361200.2	+	6	2877	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S904F|DUSP27_ENST00000443333.1_Missense_Mutation_p.S904F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	904	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCAGTAATTCCCAGAAACCT	0.483000													37	32					0	0	0.001951	0	0
BCAS2	10286	broad.mit.edu	37	1	115113361	115113361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115113361G>A	ENST00000369541.3	-	5	477	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	144					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAATCATATGAACTAGATTT	0.269000													5	8					0	0	0.001984	0	0
NLRP1	22861	broad.mit.edu	37	17	5463016	5463016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:5463016C>T	ENST00000345221.3	-	4	1554	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	NLRP1_ENST00000572272.1_Missense_Mutation_p.G334R|NLRP1_ENST00000269280.4_Missense_Mutation_p.G334R|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.G334R|NLRP1_ENST00000354411.3_Missense_Mutation_p.G334R|NLRP1_ENST00000262467.5_Missense_Mutation_p.G334R	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	334	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGCAGCCCCCTGCAGTATG	0.532000													99	17					0	0	0.003610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364570	47364570	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:47364570C>T	ENST00000505841.1	-	0	266					NR_002788.2																						TGAAGAACATCGTAAAGGGTC	0.433000													8	18					0	0	0.003080	0	0
MROH2B	133558	broad.mit.edu	37	5	41065530	41065530	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41065530G>A	ENST00000399564.4	-	4	714	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCACAGAGTTGAAATCATGTG	0.408000													10	18					0	0	0.001368	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691326	122691326	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:122691326G>A	ENST00000535274.1	+	1	2180	c.453G>A	c.(451-453)agG>agA	p.R151R	B3GNT4_ENST00000546192.1_Silent_p.R151R|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Silent_p.R176R			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	176				R -> Q (in Ref. 3; BAC04622).	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)		ATGAGAGTAGGGAGTTTGATG	0.642000													16	27					0	0	0.004007	0	0
TMEM184B	25829	broad.mit.edu	37	22	38627296	38627296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:38627296C>T	ENST00000361906.3	-	4	611	c.403G>A	c.(403-405)Gga>Aga	p.G135R	TMEM184B_ENST00000464059.1_5'UTR|TMEM184B_ENST00000361684.4_Missense_Mutation_p.G135R	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	135						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CTTTCTCCTCCTAGGTACTCA	0.507000													80	17					0	0	0.003610	0	0
COL10A1	1300	broad.mit.edu	37	6	116442256	116442256	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:116442256C>T	ENST00000327673.4	-	2	1430	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	COL10A1_ENST00000243222.4_Silent_p.G341G|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	341	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCCATATTCCCAGGGGGTC	0.632000													15	15					0	0	0.004007	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:1730378C>T	ENST00000313288.4	+	4	1355	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000													16	52					0	0	0.001216	0	0
PAPPA	5069	broad.mit.edu	37	9	118950332	118950332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:118950332G>A	ENST00000328252.3	+	2	1684	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	439	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			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						CGACGGCGGGGATTGCCGCCA	0.597000													9	26					0	0	0.000673	0	0
MED18	54797	broad.mit.edu	37	1	28661008	28661008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:28661008C>T	ENST00000373842.4	+	3	363	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	MED18_ENST00000398997.2_Missense_Mutation_p.L52F|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	52					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGACTTTCCTTGACCATGA	0.522000													194	168					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26949268	26949268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:26949268C>T	ENST00000539517.2	-	3	679	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	NOVA1_ENST00000574031.1_Missense_Mutation_p.R121Q|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Missense_Mutation_p.R121Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.R121Q|NOVA1_ENST00000344429.5_Missense_Mutation_p.R121Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	124					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGGCATTTCTCGAATTTTTTC	0.443000													44	50					0	0	0.001951	0	0
TRIM42	287015	broad.mit.edu	37	3	140406642	140406642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:140406642G>A	ENST00000286349.3	+	3	1309	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	373						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGGCAAAGCGAAAAGAGATC	0.393000													22	30					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179584443	179584443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179584443C>T	ENST00000589042.1	-	82	24000	c.23776G>A	c.(23776-23778)Gga>Aga	p.G7926R	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7609R|TTN_ENST00000342992.6_Missense_Mutation_p.G6682R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7609	Ig-like 61.						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)			AATTCTCTTCCATCTTTGAAC	0.428000													7	8					0	0	0.003080	0	0
PRLHR	2834	broad.mit.edu	37	10	120354745	120354745	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:120354745C>T	ENST00000239032.2	-	2	150	c.12G>A	c.(10-12)tcG>tcA	p.S4S	PRLHR_ENST00000369169.1_Silent_p.S4S	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	4					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CCCGAGTGGTCGATGAGGCCA	0.632000													17	33					0	0	0.006122	0	0
MYH3	4621	broad.mit.edu	37	17	10542614	10542614	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10542614C>T	ENST00000583535.1	-	24	3190		c.e24+1		MYH3_ENST00000226209.7_Splice_Site	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATTTACTTACGTCTTCCACT	0.483000													29	33					0	0	0.006320	0	0
COBL	23242	broad.mit.edu	37	7	51111251	51111251	+	Missense_Mutation	SNP	G	G	A	rs138046636		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:51111251G>A	ENST00000395542.2	-	10	1665	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	COBL_ENST00000265136.7_Missense_Mutation_p.S412F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	412								p.S412F(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTCTGAGGGGGAACTCATCAC	0.587000													30	52					0	0	0.004878	0	0
NLRP12	91662	broad.mit.edu	37	19	54299280	54299280	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:54299280C>T	ENST00000324134.6	-	9	3099	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L978L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000351894.4_Silent_p.L865L|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391775.3_Silent_p.L920L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	977					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACAGCTATCCAGCCTGGTGA	0.527000													24	27					0	0	0.004656	0	0
FBLN7	129804	broad.mit.edu	37	2	112940464	112940464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:112940464C>T	ENST00000331203.2	+	6	1038	c.767C>T	c.(766-768)cCc>cTc	p.P256L	FBLN7_ENST00000409450.3_Missense_Mutation_p.P210L|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.P256L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	256	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGCACCTGCCCCGGTGGATAC	0.652000													24	40					0	0	0.002780	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	G	A	rs141366900		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56319229G>A	ENST00000443188.1	-	6	2703	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_ENST00000592953.1_Missense_Mutation_p.R566C|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000589093.1_Missense_Mutation_p.R665C|NLRP11_ENST00000589824.2_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	665							ATP binding	p.R665C(1)		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)		TTGAGTGTGCGAAGTTTACAG	0.423000													21	39					0	0	0.002299	0	0
MYO7A	4647	broad.mit.edu	37	11	76886426	76886426	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:76886426C>T	ENST00000409709.3	+	18	2375	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	MYO7A_ENST00000409619.2_Silent_p.L690L|MYO7A_ENST00000409893.1_Silent_p.L701L|MYO7A_ENST00000458637.2_Silent_p.L701L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	701	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGGCGACCTCCGCGGGACTT	0.612000													43	137					0	0	0.003610	0	0
ATP4A	495	broad.mit.edu	37	19	36051324	36051324	+	Missense_Mutation	SNP	G	G	A	rs142971981		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:36051324G>A	ENST00000262623.3	-	6	756	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	243					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTCTCGTGCGTGCACTCGGG	0.657000													32	57					0	0	0.002836	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441761	140441761	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:140441761G>T	ENST00000406427.1	-	3	529	c.193_splice	c.e3+1	p.R65_splice	PNPLA7_ENST00000277531.4_Splice_Site_p.R40_splice	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	40					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)		AGATACTCACGAAATTGTCTA	0.592000													49	66					1.04682e-39	2.00244e-39	0.003610	1	0
CHST12	55501	broad.mit.edu	37	7	2472823	2472823	+	Silent	SNP	C	C	T	rs150939856		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:2472823C>T	ENST00000258711.6	+	2	684	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	183					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGATGATCGTGCTGAGCG	0.677000													29	39					0	0	0.001786	0	0
FRAS1	80144	broad.mit.edu	37	4	79308703	79308703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:79308703C>T	ENST00000264895.6	+	29	4263	c.3823C>T	c.(3823-3825)Cct>Tct	p.P1275S	FRAS1_ENST00000325942.6_Missense_Mutation_p.P1275S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1274					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						CCCGGCAACCCCTATCTATCA	0.488000													12	0					0	0	0.001368	0	0
SOX6	55553	broad.mit.edu	37	11	16036520	16036520	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:16036520A>C	ENST00000352083.6	-	13	1777	c.1700T>G	c.(1699-1701)gTc>gGc	p.V567G	SOX6_ENST00000527619.1_Missense_Mutation_p.V543G|SOX6_ENST00000316399.6_Missense_Mutation_p.V567G|SOX6_ENST00000396356.3_Missense_Mutation_p.V567G|SOX6_ENST00000528429.1_Missense_Mutation_p.V567G|SOX6_ENST00000528252.1_Missense_Mutation_p.V540G			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	567					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AAGGTCGATGACACCTGGGCC	0.473000													4	4					0	0	0.000248	0	0
KLHL13	90293	broad.mit.edu	37	X	117053615	117053615	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:117053615T>A	ENST00000371876.1	-	3	2707	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	KLHL13_ENST00000545703.1_Nonsense_Mutation_p.K105*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.K131*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.K150*|KLHL13_ENST00000262820.3_Nonsense_Mutation_p.K147*|KLHL13_ENST00000371878.1_Nonsense_Mutation_p.K96*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.K96*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.K96*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.K131*			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	147	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCAATAATTTTCCTTAGACCG	0.353000													54	8					0	0	0.003610	0	0
KREMEN1	83999	broad.mit.edu	37	22	29534801	29534801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:29534801C>T	ENST00000400338.2	+	7	1207	c.1154C>T	c.(1153-1155)gCt>gTt	p.A385V	KREMEN1_ENST00000327813.5_Missense_Mutation_p.A385V|KREMEN1_ENST00000400335.4_Intron|KREMEN1_ENST00000407188.1_Missense_Mutation_p.A383V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	383					cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCATGGGGGCTGGAAGCCAC	0.552000													18	4					0	0	0.006122	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769272	43769272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:43769272C>T	ENST00000389420.3	-	36	5355	c.5356G>A	c.(5356-5358)Gaa>Aaa	p.E1786K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1786	GON.					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)		TCACAGTCTTCCCTTCTACTC	0.358000													60	83					0	0	0.003610	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558296	106558296	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:106558296G>A	ENST00000526355.1	-	8	2646	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	GUCY1A2_ENST00000347596.2_Silent_p.F747F|GUCY1A2_ENST00000282249.2_Silent_p.F757F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	726					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)		TCTCCCGGAGGAACATGGTGC	0.493000													14	7					0	0	0.004990	0	0
C6	729	broad.mit.edu	37	5	41181619	41181619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41181619C>T	ENST00000263413.3	-	7	1033	c.769G>A	c.(769-771)Gat>Aat	p.D257N	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D257N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	257	MACPF.				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)				GAAGTTAAATCCTTGTAGAAA	0.363000													5	7					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179485498	179485498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179485498G>A	ENST00000589042.1	-	247	46063	c.45839C>T	c.(45838-45840)tCt>tTt	p.S15280F	TTN_ENST00000342175.6_Missense_Mutation_p.S6407F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6215F|TTN_ENST00000359218.5_Missense_Mutation_p.S6340F|TTN_ENST00000591111.1_Missense_Mutation_p.S13639F|TTN_ENST00000342992.6_Missense_Mutation_p.S12712F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13639	Fibronectin type-III 11.						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)			ATTGGTCAAAGACACATTATA	0.338000													16	13					0	0	0.001216	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307074	39307074	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39307074C>T	ENST00000541347.1	-	2	1166	c.927G>A	c.(925-927)ggG>ggA	p.G309G	CX3CR1_ENST00000399220.2_Silent_p.G309G|CX3CR1_ENST00000358309.3_Silent_p.G341G|CX3CR1_ENST00000542107.1_Silent_p.G309G	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	309					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)		CCAGGCATTTCCCATACAGGT	0.478000													49	59					0	0	0.003610	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374422	31374422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:31374422C>T	ENST00000328111.2	+	5	742	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	DNMT3B_ENST00000201963.3_Missense_Mutation_p.P153S|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P141S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P141S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P141S|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	141	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGAGTTCCCGGCTACCAG	0.627000													28	25					0	0	0.001786	0	0
DKK4	27121	broad.mit.edu	37	8	42234552	42234552	+	Silent	SNP	G	G	A	rs148434708		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:42234552G>A	ENST00000220812.2	-	1	198	c.12C>T	c.(10-12)gcC>gcT	p.A4A		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	4					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CCAGCAGGACGGCCGCCACCA	0.642000													8	6					0	0	0.004482	0	0
FBN3	84467	broad.mit.edu	37	19	8146359	8146359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:8146359C>T	ENST00000600128.1	-	58	7633	c.7219G>A	c.(7219-7221)Gat>Aat	p.D2407N	FBN3_ENST00000601739.1_Missense_Mutation_p.D2407N|FBN3_ENST00000270509.2_Missense_Mutation_p.D2407N			Q75N90	FBN3_HUMAN	fibrillin 3	2407	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCACTCATCCATATCTGGG	0.597000													85	40					0	0	0.003610	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845850	94845850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:94845850C>T	ENST00000448921.1	-	6	1588	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	SERPINA1_ENST00000393087.4_Missense_Mutation_p.G339E|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G339E|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G339E|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G339E|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G339E|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G339E|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G339E|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G339E	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	339					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAGGTCAGCCCCATTGCTGAA	0.532000													65	53					0	0	0.003610	0	0
C2orf53	339779	broad.mit.edu	37	2	27360450	27360450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:27360450G>A	ENST00000335524.3	-	3	1273	c.748C>T	c.(748-750)Cct>Tct	p.P250S		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	250										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCATATAGGATACTCCACG	0.667000													22	37					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179629403	179629403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179629403G>A	ENST00000589042.1	-	42	10063	c.9839C>T	c.(9838-9840)tCc>tTc	p.S3280F	TTN_ENST00000342175.6_Missense_Mutation_p.S3234F|TTN_ENST00000360870.5_Missense_Mutation_p.S3280F|TTN_ENST00000460472.2_Missense_Mutation_p.S3234F|TTN_ENST00000359218.5_Missense_Mutation_p.S3234F|TTN_ENST00000591111.1_Missense_Mutation_p.S3280F|TTN_ENST00000342992.6_Missense_Mutation_p.S3280F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3009	Ig-like 19.						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)			GAAGCCAGTGGAAAGCAGCTG	0.512000													15	22					0	0	0.004007	0	0
SMAD2	4087	broad.mit.edu	37	18	45395668	45395668	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:45395668T>C	ENST00000402690.2	-	4	860	c.466A>G	c.(466-468)Aaa>Gaa	p.K156E	SMAD2_ENST00000356825.4_Missense_Mutation_p.K126E|SMAD2_ENST00000262160.6_Missense_Mutation_p.K156E|SMAD2_ENST00000591214.1_Missense_Mutation_p.K126E|SMAD2_ENST00000586040.1_Missense_Mutation_p.K126E|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	156	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCATCCTTTTTAAGATTAAAA	0.373000													9	8					0	0	0.006214	0	0
LY75	4065	broad.mit.edu	37	2	160741674	160741674	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:160741674C>T	ENST00000263636.4	-	6	1071	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	LY75-CD302_ENST00000504764.1_Silent_p.V348V|LY75-CD302_ENST00000505052.1_Silent_p.V348V|LY75_ENST00000553424.1_Silent_p.V348V|LY75_ENST00000554112.1_Silent_p.V348V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTGTTAACTCCACTGTATTAT	0.388000													5	10					0	0	0.001168	0	0
PM20D1	148811	broad.mit.edu	37	1	205813963	205813963	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:205813963G>A	ENST00000367136.4	-	4	596	c.552C>T	c.(550-552)ttC>ttT	p.F184F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	184						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAGAGAAATGAAGAAAGATC	0.512000													27	24					0	0	0.002445	0	0
WISP3	8838	broad.mit.edu	37	6	112386105	112386105	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:112386105G>T	ENST00000361714.1	+	3	593	c.548G>T	c.(547-549)tGc>tTc	p.C183F	WISP3_ENST00000604763.1_Missense_Mutation_p.C165F|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Missense_Mutation_p.C142F|WISP3_ENST00000368666.2_Missense_Mutation_p.C165F|WISP3_ENST00000230529.5_Missense_Mutation_p.C165F			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	165					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GGCAGTCACTGCTCTGGAGCT	0.507000													16	41					1.45105e-14	2.75482e-14	0.006122	1	0
MROH2B	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41004526G>A	ENST00000399564.4	-	37	4566	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	MROH2B_ENST00000506092.2_Silent_p.I927I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCAGCTCCAGGATTTTTTTTA	0.438000													9	8					0	0	0.000673	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59500206	59500206	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:59500206A>G	ENST00000307144.4	+	1	1165	c.1067A>G	c.(1066-1068)aAg>aGg	p.K356R	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	356					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	ATAAAGATAAAGCTGACCCCT	0.388000													38	79					0	0	0.002852	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:35774065G>A	ENST00000440995.2	+	28	4005	c.4005G>A	c.(4003-4005)agG>agA	p.R1335R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.R1340R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1340					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)			AAATCAAAAGGAAAAATGAAC	0.388000													4	3					0	0	0.000248	0	0
CP	1356	broad.mit.edu	37	3	148904371	148904371	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:148904371C>T	ENST00000264613.6	-	11	2275	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGTGTCTCTCCGTTCTCCTC	0.458000													27	26					0	0	0.007291	0	0
RBP3	5949	broad.mit.edu	37	10	48387882	48387882	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:48387882T>G	ENST00000224600.4	-	1	3109	c.2996A>C	c.(2995-2997)aAg>aCg	p.K999T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	999	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			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)	ATGGGCTGCCTTCAGGTGTGG	0.612000													67	9					0	0	0.003610	0	0
SHPK	23729	broad.mit.edu	37	17	3527480	3527480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:3527480C>T	ENST00000225519.3	-	3	458	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	119					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCTAACAGCTCGGGGCTCGAA	0.562000													16	5					0	0	0.006122	0	0
KIF21B	23046	broad.mit.edu	37	1	200944676	200944676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200944676C>T	ENST00000332129.2	-	32	4842	c.4526G>A	c.(4525-4527)cGa>cAa	p.R1509Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1522Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1522Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1509Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1522					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCGTTATCTCGGGAGCCACT	0.597000													21	23					0	0	0.005443	0	0
BSND	7809	broad.mit.edu	37	1	55472707	55472707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55472707G>A	ENST00000371265.4	+	3	564	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	104						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGTGGGAGGAAGCCGCCTA	0.597000													33	17					0	0	0.003755	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:30371683C>T	ENST00000340513.4	+	13	2008	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	TPX2_ENST00000300403.6_Missense_Mutation_p.H458Y			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000													36	54					0	0	0.006999	0	0
IFNW1	3467	broad.mit.edu	37	9	21141195	21141195	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:21141195C>T	ENST00000380229.2	-	1	949	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	125					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCCACTACCTGCAGCAAGC	0.537000													6	12					0	0	0.001984	0	0
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428000													21	2					0	0	0.001523	0	0
FBXL7	23194	broad.mit.edu	37	5	15936881	15936881	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:15936881C>T	ENST00000504595.1	+	4	1543	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	FBXL7_ENST00000329673.7_Silent_p.Y342Y|FBXL7_ENST00000510662.1_Silent_p.Y307Y	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	354					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCTGCGGTACCTGAGCATCG	0.667000													8	8					0	0	0.003080	0	0
DENND1A	57706	broad.mit.edu	37	9	126214610	126214610	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:126214610A>T	ENST00000373624.2	-	17	1445	c.1244T>A	c.(1243-1245)aTt>aAt	p.I415N	DENND1A_ENST00000394219.3_Missense_Mutation_p.I383N|DENND1A_ENST00000394215.2_Missense_Mutation_p.I385N|DENND1A_ENST00000373618.1_Missense_Mutation_p.I383N|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.I415N|DENND1A_ENST00000542603.1_Missense_Mutation_p.I157N	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	415						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGTATTCAGAATTGCTCCACT	0.413000													40	58					0	0	0.002522	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	A	rs121913255		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115256528T>A	ENST00000369535.4	-	3	436	c.183A>T	c.(181-183)caA>caT	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			123	104					0	0	0.003610	0	0
CACNA1F	778	broad.mit.edu	37	X	49066207	49066207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:49066207G>A	ENST00000376265.2	-	41	4797	c.4736C>T	c.(4735-4737)aCc>aTc	p.T1579I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1568I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1514I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1579					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTTGCCCACGGTGACCTCCTC	0.587000													21	2					0	0	0.002299	0	0
SFI1	9814	broad.mit.edu	37	22	31927102	31927102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:31927102C>T	ENST00000432498.1	+	4	718	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.P109S|SFI1_ENST00000400289.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	109					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AAGAGTATTTCCCTCTAAAGC	0.318000													33	5					0	0	0.003755	0	0
ANKRD7	56311	broad.mit.edu	37	7	117865049	117865049	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:117865049G>A	ENST00000357099.4	+	1	338	c.165G>A	c.(163-165)caG>caA	p.Q55Q	ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000417525.1_Silent_p.Q2Q|ANKRD7_ENST00000433239.1_Silent_p.Q2Q|ANKRD7_ENST00000265224.4_Silent_p.Q55Q			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	55					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAAATATGCAGGACAAAAAAT	0.463000													41	54					0	0	0.002852	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705425	60705425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:60705425G>A	ENST00000227880.3	-	7	1741	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	503					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GCCCACCCCCGACAGGCAGAA	0.642000													20	22					0	0	0.001523	0	0
NUTF2	10204	broad.mit.edu	37	16	67902281	67902281	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:67902281C>T	ENST00000219169.4	+	3	421	c.138C>T	c.(136-138)ttC>ttT	p.F46F	NUTF2_ENST00000568396.2_Silent_p.F46F|NUTF2_ENST00000569436.2_Silent_p.F46F	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	46	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GACAACAGTTCCAGGGGAAAG	0.542000													32	41					0	0	0.006230	0	0
F13A1	2162	broad.mit.edu	37	6	6266803	6266803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:6266803G>A	ENST00000264870.3	-	4	824	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	187					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCACACCAAGGATTGAAGAGA	0.458000													15	64					0	0	0.006122	0	0
ABCC8	6833	broad.mit.edu	37	11	17482058	17482058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:17482058C>T	ENST00000302539.4	-	6	1113	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E330K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	330	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.E330K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACGTCGTTCTCCTTCCCAAGG	0.592000													109	129					0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201016734	201016734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201016734C>T	ENST00000362061.3	-	37	4688	c.4462G>A	c.(4462-4464)Gag>Aag	p.E1488K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1469K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1488					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAGCTCCTCGTTGGCCTGC	0.512000													37	40					0	0	0.006999	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367487	234367487	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:234367487G>A	ENST00000366618.3	+	3	753	c.608_splice	c.e3+1	p.R203_splice	SLC35F3_ENST00000366617.3_Splice_Site_p.R134_splice	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CAGCGATACAGGTAGGCGCGT	0.602000													44	49					0	0	0.002852	0	0
LFNG	3955	broad.mit.edu	37	7	2564882	2564882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:2564882G>A	ENST00000222725.5	+	3	531	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	LFNG_ENST00000402506.1_Missense_Mutation_p.A100T|LFNG_ENST00000402045.1_Missense_Mutation_p.A42T|LFNG_ENST00000338732.3_Missense_Mutation_p.A42T|LFNG_ENST00000359574.3_Missense_Mutation_p.A171T	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	171					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTCGGCCGCCCACAGCCG	0.677000													8	24					0	0	0.004482	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719126	48719126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48719126C>T	ENST00000294129.2	-	5	805	c.686G>A	c.(685-687)aGc>aAc	p.S229N	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S229N|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S222N	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	229	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGCTGGAGCTGGTATAGAG	0.662000													12	8					0	0	0.001368	0	0
GRM7	2917	broad.mit.edu	37	3	7503366	7503366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:7503366G>A	ENST00000486284.1	+	7	1746	c.1472G>A	c.(1471-1473)gGt>gAt	p.G491D	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.G491D|GRM7_ENST00000403881.1_Missense_Mutation_p.G491D|GRM7_ENST00000389336.4_Missense_Mutation_p.G491D|GRM7_ENST00000402647.2_Missense_Mutation_p.G491D	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	491					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCAACCCGGGTTACCGTCTG	0.478000													28	26					0	0	0.002445	0	0
EVPL	2125	broad.mit.edu	37	17	74015720	74015720	+	Silent	SNP	G	G	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:74015720G>C	ENST00000301607.3	-	10	1279	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	EVPL_ENST00000586740.1_Silent_p.A342A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	342	Globular 1.				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						TGACTGAGTCGGCCTCTTCCT	0.617000													14	21					0	0	0.003163	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160431	61160431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:61160431G>A	ENST00000489441.1	+	5	765	c.670G>A	c.(670-672)Gca>Aca	p.A224T	SERPINB5_ENST00000382771.4_Intron|SERPINB5_ENST00000464346.1_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAACCTGAGGGCACGGCCGGC	0.488000													5	9					0	0	0.000602	0	0
PARN	5073	broad.mit.edu	37	16	14711453	14711453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:14711453G>A	ENST00000437198.2	-	6	523	c.382C>T	c.(382-384)Cga>Tga	p.R128*	PARN_ENST00000420015.2_Nonsense_Mutation_p.R82*|PARN_ENST00000566021.1_Intron|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Nonsense_Mutation_p.R67*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	128					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.R128*(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTACCATTTCGAAAAACTTTA	0.358000													35	44					0	0	0.004878	0	0
MRPS24	64951	broad.mit.edu	37	7	43906416	43906416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:43906416G>A	ENST00000317534.5	-	4	447	c.386C>T	c.(385-387)cCa>cTa	p.P129L	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	129					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						GTACTTGTGTGGAGACAACTG	0.532000													38	43					0	0	0.001951	0	0
SLC15A2	6565	broad.mit.edu	37	3	121642073	121642073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:121642073C>T	ENST00000489711.1	+	11	1350	c.962C>T	c.(961-963)tCa>tTa	p.S321L	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S290L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	321					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCCTAGGGTTCACGATGGACT	0.423000													32	45					0	0	0.003271	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723763	38723763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:38723763C>T	ENST00000342213.2	-	1	1811	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	489						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCCTATGCATCACTAGAGCCA	0.502000													30	26					0	0	0.001786	0	0
USH2A	7399	broad.mit.edu	37	1	216040469	216040469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:216040469C>T	ENST00000366943.2	-	44	9111	c.8725G>A	c.(8725-8727)Ggt>Agt	p.G2909S	USH2A_ENST00000307340.3_Missense_Mutation_p.G2909S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2909	Fibronectin type-III 15.				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)		GGTGTAAAACCCACACTGTTG	0.398000										HNSCC(13;0.011)			14	16					0	0	0.004990	0	0
GRID2	2895	broad.mit.edu	37	4	94137945	94137945	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:94137945G>A	ENST00000282020.4	+	6	1104	c.846G>A	c.(844-846)acG>acA	p.T282T	GRID2_ENST00000510992.1_Silent_p.T187T|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	282					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAGGTTAACGATTATTCGGC	0.398000													4	1					0	0	0.000602	0	0
DDN	23109	broad.mit.edu	37	12	49391257	49391257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:49391257G>A	ENST00000421952.2	-	2	1423	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	468	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CGGGGGGTTGGAACATATTGG	0.632000													26	34					0	0	0.006320	0	0
PRKCB	5579	broad.mit.edu	37	16	24196848	24196848	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:24196848C>A	ENST00000303531.7	+	15	1834	c.1682C>A	c.(1681-1683)cCc>cAc	p.P561H	PRKCB_ENST00000321728.7_Missense_Mutation_p.P561H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	561	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTAGCCTATCCCAAGTCTATG	0.507000													8	20					9.70103e-10	1.82572e-09	0.000673	1	0
CTNNA2	1496	broad.mit.edu	37	2	80772163	80772163	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:80772163G>A	ENST00000466387.1	+	14	2071	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R	CTNNA2_ENST00000496558.1_Silent_p.R449R|CTNNA2_ENST00000402739.4_Silent_p.R449R|CTNNA2_ENST00000541047.1_Silent_p.R449R|CTNNA2_ENST00000343114.3_Silent_p.R128R|CTNNA2_ENST00000540488.1_Silent_p.R449R|CTNNA2_ENST00000361291.4_Silent_p.R483R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	449					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATTAGTTCGGATGGCAGCCA	0.483000													7	8					0	0	0.000673	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165196	30165196	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:30165196C>T	ENST00000436066.3	+	2	916	c.450C>T	c.(448-450)atC>atT	p.I150I	PLEKHF1_ENST00000592810.1_Silent_p.I150I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	150					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CACCCTGGATCCCCGACAAGG	0.697000													4	9					0	0	0.000602	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881816	15881816	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:15881816C>T	ENST00000587443.2	-	0	1081					NR_033864.1																						AGAAGCACATCAATGAAATCC	0.438000													68	37					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107684225	107684225	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:107684225G>A	ENST00000388781.3	-	29	4526	c.4443C>T	c.(4441-4443)ttC>ttT	p.F1481F	LAMB4_ENST00000205386.4_Silent_p.F1481F|LAMB4_ENST00000388780.3_Silent_p.F1481F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1481	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTTTTTGATGAAAAGATTGA	0.299000													19	30					0	0	0.007413	0	0
OTUD7B	56957	broad.mit.edu	37	1	149939341	149939341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:149939341G>A	ENST00000369135.3	-	4	674	c.380C>T	c.(379-381)cCc>cTc	p.P127L	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	127					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATTTCCAGGGGGTGCTCATT	0.572000													11	20					0	0	0.000673	0	0
GPR31	2853	broad.mit.edu	37	6	167571229	167571229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:167571229C>T	ENST00000366834.1	-	1	588	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	31						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGCGTTGCCCAGCAGACCC	0.657000													12	17					0	0	0.001855	0	0
ATP1A4	480	broad.mit.edu	37	1	160122976	160122976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:160122976G>A	ENST00000368081.4	+	2	640	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	57					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTAACCTTGGAAGAGCTGAG	0.552000													17	15					0	0	0.006122	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377205	125377205	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:125377205C>T	ENST00000297913.2	+	1	258	c.189C>T	c.(187-189)ctC>ctT	p.L63L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACATCTTCCTCAGTAACTTGG	0.473000													32	37					0	0	0.004289	0	0
RHOH	399	broad.mit.edu	37	4	40245414	40245414	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:40245414G>A	ENST00000381799.4	+	3	1132	c.408G>A	c.(406-408)ggG>ggA	p.G136G	RHOH_ENST00000505618.1_Silent_p.G136G	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	136					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATGGAAGGGAAGAAACTGG	0.622000													13	9					0	0	0.002450	0	0
ADAL	161823	broad.mit.edu	37	15	43641199	43641199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:43641199C>T	ENST00000422466.2	+	11	1302	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ADAL_ENST00000428046.3_Missense_Mutation_p.S216F|ADAL_ENST00000389651.4_Missense_Mutation_p.S243F|ADAL_ENST00000562188.1_Missense_Mutation_p.S243F			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	243					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAGGGAGGATCCCTGGATCTG	0.488000													22	16					0	0	0.001523	0	0
SNX29	92017	broad.mit.edu	37	16	12146074	12146074	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:12146074C>T	ENST00000566228.1	+	8	1188	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	SNX29_ENST00000323433.4_5'UTR|SNX29_ENST00000306030.3_5'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CGGAGTCGCCCGAGAAGTAAG	0.532000													16	19					0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40944413	40944413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:40944413G>A	ENST00000373198.3	-	12	2324	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	PTPRT_ENST00000373190.1_Missense_Mutation_p.P697S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P697S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P697S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P697S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P697S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P697S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	697	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTTTCAGGGGAGAGAGAGGA	0.493000													41	30					0	0	0.001951	0	0
CPAMD8	27151	broad.mit.edu	37	19	17007101	17007101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:17007101C>T	ENST00000443236.1	-	41	5484	c.5453G>A	c.(5452-5454)gGg>gAg	p.G1818E	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1771						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGGTCATCCCCGTAGGTGGA	0.692000													11	33					0	0	0.001368	0	0
PDZD2	23037	broad.mit.edu	37	5	32088006	32088006	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:32088006G>A	ENST00000438447.1	+	20	4840	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	PDZD2_ENST00000282493.3_Silent_p.R1484R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1484					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCCCCGAGGAGGGCCTGGG	0.632000													12	9					0	0	0.001368	0	0
FAM193A	8603	broad.mit.edu	37	4	2698261	2698261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:2698261G>A	ENST00000324666.5	+	16	2926	c.2575G>A	c.(2575-2577)Gaa>Aaa	p.E859K	FAM193A_ENST00000505311.1_Missense_Mutation_p.E859K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E881K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E859K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E859K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	859										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAATAGCTCCGAAACCAAACC	0.512000													24	24					0	0	0.003330	0	0
ZNF813	126017	broad.mit.edu	37	19	53994434	53994434	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:53994434A>C	ENST00000396403.4	+	4	1076	c.948A>C	c.(946-948)agA>agC	p.R316S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACCTTAAAAGACATAGGAGAA	0.388000													23	35					0	0	0.003330	0	0
A2ML1	144568	broad.mit.edu	37	12	8995864	8995864	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:8995864C>T	ENST00000299698.7	+	12	1563	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	305						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAAACGGCCCCTTGAAATGTG	0.557000													49	13					0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71891488	71891488	+	Silent	SNP	C	C	T	rs149087116		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:71891488C>T	ENST00000258104.3	+	45	5254	c.4977C>T	c.(4975-4977)atC>atT	p.I1659I	DYSF_ENST00000410020.3_Silent_p.I1698I|DYSF_ENST00000429174.2_Silent_p.I1680I|DYSF_ENST00000410041.1_Silent_p.I1677I|DYSF_ENST00000413539.2_Silent_p.I1690I|DYSF_ENST00000409762.1_Silent_p.I1676I|DYSF_ENST00000409651.1_Silent_p.I1691I|DYSF_ENST00000409582.3_Silent_p.I1697I|DYSF_ENST00000409366.1_Silent_p.I1681I|DYSF_ENST00000394120.2_Silent_p.I1660I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.I1667I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1659	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGAAAAGATCGGTGAGACGG	0.567000													24	26					0	0	0.005443	0	0
KIAA0895	23366	broad.mit.edu	37	7	36397176	36397176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:36397176C>T	ENST00000317020.6	-	2	349	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	KIAA0895_ENST00000338533.5_Missense_Mutation_p.E55K|KIAA0895_ENST00000297063.6_Missense_Mutation_p.E68K|KIAA0895_ENST00000415803.2_Missense_Mutation_p.E55K|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.E17K|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	68	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTAGCAAGTTCTTGCTCAGGC	0.333000													15	21					0	0	0.003163	0	0
MUT	4594	broad.mit.edu	37	6	49427140	49427140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:49427140G>A	ENST00000274813.3	-	2	167	c.40C>T	c.(40-42)Cat>Tat	p.H14Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	14					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCAGGTAATGAGGTGAAAGT	0.448000													15	93					0	0	0.006122	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967836	35967836	+	Silent	SNP	G	G	A	rs142275991		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:35967836G>A	ENST00000490799.1	-	4	731	c.378C>T	c.(376-378)atC>atT	p.I126I	SLC26A8_ENST00000355574.2_Silent_p.I126I|SLC26A8_ENST00000394602.2_Silent_p.I126I	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	126					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGCATAAGCGATGTTGAGAG	0.403000													145	232					0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418180	139418180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:139418180G>A	ENST00000277541.6	-	3	467	c.392C>T	c.(391-393)cCc>cTc	p.P131L	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	131	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGACCAGCCGGGCGGGCAGCG	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	8					0	0	0.004482	0	0
MYOM2	9172	broad.mit.edu	37	8	2044252	2044252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:2044252C>T	ENST00000262113.4	+	18	2432	c.2291C>T	c.(2290-2292)cCc>cTc	p.P764L	MYOM2_ENST00000523438.1_Missense_Mutation_p.P189L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	764	Fibronectin type-III 4.				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)		AATTCCTCACCCAGCAAACCG	0.473000													9	32					0	0	0.006214	0	0
OR6K2	81448	broad.mit.edu	37	1	158670295	158670295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:158670295G>A	ENST00000359610.2	-	1	191	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GTATTCAACTGGACCACTGTG	0.433000													11	17					0	0	0.000673	0	0
DBH	1621	broad.mit.edu	37	9	136516773	136516773	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:136516773G>A	ENST00000393056.2	+	7	1221	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	403					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCCTCCGGGATCCACATCT	0.677000													15	36					0	0	0.004007	0	0
SSTR4	6754	broad.mit.edu	37	20	23016733	23016733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:23016733C>T	ENST00000255008.3	+	1	677	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	205					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGGCCACACCCGGCCTGGTC	0.652000													33	53					0	0	0.002445	0	0
AVIL	10677	broad.mit.edu	37	12	58204681	58204681	+	Missense_Mutation	SNP	C	C	T	rs150762636	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:58204681C>T	ENST00000537081.1	-	5	454	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	AVIL_ENST00000257861.3_Missense_Mutation_p.R159Q			O75366	AVIL_HUMAN	advillin	159	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCACCTCGGTTGAAACT	0.542000													43	64					0	0	0.002852	0	0
GEMIN4	50628	broad.mit.edu	37	17	648573	648573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:648573G>A	ENST00000576778.1	-	1	4018	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	GEMIN4_ENST00000319004.5_Missense_Mutation_p.P904S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	904					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGGCAAAGGGCTTCAGGTTG	0.537000													23	2					0	0	0.002780	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													44	2					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110516656	110516656	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:110516656G>A	ENST00000378402.5	+	68	11033	c.10929G>A	c.(10927-10929)gtG>gtA	p.V3643V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3643					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)			CAATCCATGTGAAGAATATAA	0.289000										HNSCC(38;0.096)			7	7					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179490104C>T	ENST00000589042.1	-	241	44668	c.44444G>A	c.(44443-44445)gGa>gAa	p.G14815E	TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN_ENST00000591111.1_Missense_Mutation_p.G13174E|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13174	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353000													7	12					0	0	0.001984	0	0
GDAP1	54332	broad.mit.edu	37	8	75262797	75262797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:75262797C>T	ENST00000220822.7	+	1	181	c.101C>T	c.(100-102)tCg>tTg	p.S34L	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	34	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGACGCATTCGTTCAGCTCT	0.622000													11	37					0	0	0.004007	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872404	51872404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:51872404C>T	ENST00000371497.5	+	2	3294	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P800S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P800S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	803					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGTCCTCCCCAAAGCCAC	0.562000													30	44					0	0	0.002836	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668153	94668153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:94668153G>A	ENST00000260526.6	-	11	1272	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.L364F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	364					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTGTTGAGATTTTTTGCT	0.383000													73	73					0	0	0.003610	0	0
MPND	84954	broad.mit.edu	37	19	4359234	4359234	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:4359234C>T	ENST00000599840.1	+	12	1436	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	MPND_ENST00000262966.8_Silent_p.T437T|MPND_ENST00000359935.4_Silent_p.T417T			Q8N594	MPND_HUMAN	MPN domain containing	437							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCACACCTACCTCGACA	0.617000													29	72					0	0	0.003271	0	0
IGFBP7	3490	broad.mit.edu	37	4	57976074	57976074	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:57976074G>A	ENST00000295666.4	-	1	477	c.444C>T	c.(442-444)atC>atT	p.I148I	IGFBP7_ENST00000537922.1_Silent_p.I148I|RP11-12A1.1_ENST00000508328.1_RNA|RP11-12A1.1_ENST00000499667.2_RNA	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	148	Kazal-like.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGACCTGGGTGATGGCCTTCT	0.736000													5	0					0	0	0.001168	0	0
TRAV20	28663	broad.mit.edu	37	14	22508931	22508931	+	RNA	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22508931C>A	ENST00000390448.3	+	0	92																											TTGGAGTGTGCATTCATAGTC	0.413000													22	38					1.17739e-12	2.22691e-12	0.005443	1	0
AHI1	54806	broad.mit.edu	37	6	135639733	135639733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:135639733G>A	ENST00000367800.4	-	24	3566	c.3350C>T	c.(3349-3351)cCt>cTt	p.P1117L	AHI1_ENST00000457866.2_Missense_Mutation_p.P1117L|AHI1_ENST00000417892.2_Missense_Mutation_p.P471L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1117						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTTATCTCAGGAGGCAGTTC	0.413000													3	7					0	0	0.004672	0	0
CCL25	6370	broad.mit.edu	37	19	8121277	8121277	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:8121277G>A	ENST00000253451.4	+	4	325	c.219G>A	c.(217-219)aaG>aaA	p.K73K	CCL25_ENST00000390669.3_Silent_p.K73K|CCL25_ENST00000315626.4_Intron	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	73					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						GACACAGGAAGGTGTGTGGGA	0.577000													13	13					0	0	0.002450	0	0
TRPM5	29850	broad.mit.edu	37	11	2433482	2433482	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:2433482C>T	ENST00000452833.1	-	16	2371	c.2361_splice	c.e16-1	p.G788_splice	TRPM5_ENST00000533060.1_Splice_Site_p.G786_splice|TRPM5_ENST00000528453.1_Splice_Site_p.G786_splice|TRPM5_ENST00000155858.6_Splice_Site_p.G786_splice			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	786						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGAAGAAGCCCTGGGAGGG	0.567000													64	104					0	0	0.003610	0	0
DARS	1615	broad.mit.edu	37	2	136741005	136741005	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:136741005T>A	ENST00000264161.4	-	2	301	c.86A>T	c.(85-87)tAt>tTt	p.Y29F	DARS_ENST00000537273.1_Intron	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	29					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AGATATTCCATATCTCTCTTT	0.294000													10	16					0	0	0.006214	0	0
GRK7	131890	broad.mit.edu	37	3	141497624	141497624	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:141497624C>T	ENST00000264952.2	+	1	635	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	166	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTAAGGATTTCGTGACCAGCG	0.537000													58	73					0	0	0.003610	0	0
CD3D	915	broad.mit.edu	37	11	118211283	118211283	+	Silent	SNP	C	C	T	rs144504840		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:118211283C>T	ENST00000300692.4	-	2	217	c.81G>A	c.(79-81)gaG>gaA	p.E27E	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Silent_p.E27E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	27					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTCAAGTTCCTCTATAGGTA	0.473000													12	3					0	0	0.002450	0	0
RP1	6101	broad.mit.edu	37	8	55537447	55537447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:55537447G>A	ENST00000220676.1	+	4	1153	c.1005G>A	c.(1003-1005)atG>atA	p.M335I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	335					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.M335I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTTGAGATGAAAGTTCGAT	0.313000													18	17					0	0	0.004990	0	0
ITGA6	3655	broad.mit.edu	37	2	173349974	173349974	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:173349974C>T	ENST00000375221.2	+	14	2156	c.1953C>T	c.(1951-1953)ccC>ccT	p.P651P	ITGA6_ENST00000409532.1_Silent_p.P493P|ITGA6_ENST00000409080.1_Silent_p.P612P|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Silent_p.P607P|ITGA6_ENST00000264106.6_Silent_p.P651P|ITGA6_ENST00000264107.7_Silent_p.P612P			P23229	ITA6_HUMAN	integrin, alpha 6	651					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGATGAACCCAAGACAGCTC	0.403000													23	51					0	0	0.006320	0	0
ROS1	6098	broad.mit.edu	37	6	117609790	117609790	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:117609790C>T	ENST00000368508.3	-	43	7107	c.6909G>A	c.(6907-6909)agG>agA	p.R2303R	ROS1_ENST00000368507.3_Silent_p.R2297R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2303					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTCTTCTTTCCTCAGACCAC	0.468000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	12					0	0	0.002450	0	0
MYO16	23026	broad.mit.edu	37	13	109318440	109318440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:109318440C>T	ENST00000356711.2	+	2	295	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	MYO16_ENST00000251041.5_Missense_Mutation_p.H57Y|MYO16_ENST00000357550.2_Missense_Mutation_p.H57Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	57					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP 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)			TCCGAAAGTTCACTTCAACCT	0.458000													4	7					0	0	0.000602	0	0
ECT2L	345930	broad.mit.edu	37	6	139164127	139164127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:139164127G>A	ENST00000423192.1	+	5	515	c.354G>A	c.(352-354)tgG>tgA	p.W118*	ECT2L_ENST00000367682.2_Nonsense_Mutation_p.W118*|ECT2L_ENST00000541398.1_Nonsense_Mutation_p.W49*			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	118	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCTTATGGATGCCCAAAT	0.393000			"""N, Splice, Mis"""		ETP ALL								59	48					0	0	0.003610	0	0
GUSB	2990	broad.mit.edu	37	7	65435305	65435305	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:65435305G>A	ENST00000304895.4	-	9	1570	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	GUSB_ENST00000421103.1_Silent_p.T334T|GUSB_ENST00000345660.6_Silent_p.T429T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	480					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCTCACAAAGGTCACAGGCC	0.572000													23	43					0	0	0.003954	0	0
SUPT5H	6829	broad.mit.edu	37	19	39961136	39961136	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:39961136C>T	ENST00000599117.1	+	19	2017	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	SUPT5H_ENST00000402194.2_Silent_p.I546I|SUPT5H_ENST00000598725.1_Silent_p.I550I|SUPT5H_ENST00000432763.2_Silent_p.I550I|SUPT5H_ENST00000359191.6_Silent_p.I546I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	550					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGTGTCATCGTGCGACTAG	0.592000													74	79					0	0	0.003610	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210736	193210736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:193210736G>A	ENST00000342695.4	-	5	825	c.503C>T	c.(502-504)tCa>tTa	p.S168L	ATP13A4_ENST00000295548.3_Missense_Mutation_p.S168L|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S168L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	168					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)		TGTCAAGCCTGATCCAAATTT	0.318000													15	21					0	0	0.004990	0	0
RIC3	79608	broad.mit.edu	37	11	8159847	8159847	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:8159847G>A	ENST00000343202.4	-	3	464	c.399C>T	c.(397-399)gcC>gcT	p.A133A	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Silent_p.A133A|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.A84A|RIC3_ENST00000309737.6_Silent_p.A133A	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	133						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCCAGGCATGGCAGTATAGC	0.448000													61	78					0	0	0.003610	0	0
KAT6A	7994	broad.mit.edu	37	8	41834820	41834820	+	Nonsense_Mutation	SNP	G	G	A	rs144857451		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:41834820G>A	ENST00000396930.3	-	8	1612	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.R357*|KAT6A_ENST00000485568.1_Nonsense_Mutation_p.R357*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.R357*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	357	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	p.R357*(1)									GGGCCAGTTCGAACTTTGCTG	0.378000													17	8					0	0	0.007413	0	0
IRAK2	3656	broad.mit.edu	37	3	10276167	10276167	+	Missense_Mutation	SNP	C	C	T	rs141630240		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:10276167C>T	ENST00000256458.4	+	11	1387	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	433	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGTGATATTCCAAGCAGCAC	0.597000													19	30					0	0	0.003954	0	0
NLRP8	126205	broad.mit.edu	37	19	56487665	56487665	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56487665C>T	ENST00000291971.3	+	8	2943	c.2872C>T	c.(2872-2874)Ctg>Ttg	p.L958L	NLRP8_ENST00000590542.1_Silent_p.L939L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	958						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATTACAGATCCTGGAGTAAGT	0.458000													24	23					0	0	0.003954	0	0
FGD2	221472	broad.mit.edu	37	6	36993606	36993606	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36993606G>A	ENST00000274963.8	+	14	1668	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	499					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GGGCCGAACTGAAATACGACG	0.627000													43	74					0	0	0.003610	0	0
GALP	85569	broad.mit.edu	37	19	56688492	56688492	+	Silent	SNP	C	C	T	rs74912591	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56688492C>T	ENST00000357330.2	+	2	97	c.15C>T	c.(13-15)tcC>tcT	p.S5S	GALP_ENST00000440823.1_Silent_p.S5S|GALP_ENST00000590002.1_Silent_p.S5S	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	5					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTCCTCCCTCCGTCCCCCTGG	0.642000													4	8					0	0	0.000602	0	0
MCF2	4168	broad.mit.edu	37	X	138729049	138729049	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:138729049C>T	ENST00000520602.1	-	3	324	c.39G>A	c.(37-39)aaG>aaA	p.K13K	MCF2_ENST00000519895.1_Silent_p.K13K|MCF2_ENST00000414978.1_Silent_p.K13K|MCF2_ENST00000370578.4_Silent_p.K98K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGCATTGTCCTTTCCCCGGC	0.328000													8	1					0	0	0.003080	0	0
C1orf210	149466	broad.mit.edu	37	1	43748580	43748580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:43748580C>T	ENST00000523677.1	-	3	451	c.218G>A	c.(217-219)gGa>gAa	p.G73E	C1orf210_ENST00000423420.1_Missense_Mutation_p.G73E	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	73						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTCCCCTTCCTGTCTCAGG	0.612000													26	55					0	0	0.006320	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54674184	54674184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:54674184C>T	ENST00000230640.5	+	17	2107	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P517L	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	618					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATAGTAATTCCCAATGAAGAA	0.274000													18	17					0	0	0.001882	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136446	46136446	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:46136446G>T	ENST00000362042.3	+	6	2378	c.1762G>T	c.(1762-1764)Gac>Tac	p.D588Y	NFE2L1_ENST00000361665.3_Missense_Mutation_p.D577Y|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D400Y|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D389Y|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D558Y|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D558Y|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D432Y	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	588					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGACTCAGCCGACCTGCCACC	0.612000													26	28					8.24728e-16	1.56968e-15	0.004656	1	0
VAV3	10451	broad.mit.edu	37	1	108293799	108293799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:108293799C>T	ENST00000370056.4	-	13	1473	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	VAV3_ENST00000527011.1_Missense_Mutation_p.R400Q|VAV3_ENST00000371846.4_Missense_Mutation_p.R335Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	400	PH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCCTGAGGTCGTCCAAAAAG	0.299000													23	20					0	0	0.007291	0	0
IKZF4	64375	broad.mit.edu	37	12	56427047	56427047	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56427047C>T	ENST00000262032.5	+	11	1306	c.939C>T	c.(937-939)atC>atT	p.I313I	IKZF4_ENST00000547167.1_Silent_p.I313I|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Silent_p.I211I|IKZF4_ENST00000547791.1_Silent_p.I268I			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	313					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CAACTTTCATCGATCGTCTGG	0.512000													40	62					0	0	0.001951	0	0
SBF2	81846	broad.mit.edu	37	11	9989952	9989952	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:9989952G>A	ENST00000256190.8	-	14	1673	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	512					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGCATTCTGGTTCTTAGCAA	0.423000													77	84					0	0	0.003610	0	0
NR5A2	2494	broad.mit.edu	37	1	200143285	200143285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200143285G>A	ENST00000367362.3	+	8	1819	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	NR5A2_ENST00000236914.3_Missense_Mutation_p.D479N|NR5A2_ENST00000544748.1_Missense_Mutation_p.D453N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	525					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.D525N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTGAACGGGGATGTGCCCTA	0.453000													4	11					0	0	0.000248	0	0
TEX15	56154	broad.mit.edu	37	8	30699564	30699564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:30699564C>T	ENST00000256246.2	-	1	7044	c.6970G>A	c.(6970-6972)Gaa>Aaa	p.E2324K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2324										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTGTTGTTCCTGAGAGTCT	0.343000													10	17					0	0	0.006214	0	0
OR2L8	391190	broad.mit.edu	37	1	248112449	248112449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248112449G>A	ENST00000357191.3	+	1	290	c.290G>A	c.(289-291)gGg>gAg	p.G97E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTGGGTGTGGGATTCAGAGT	0.438000													8	95					0	0	0.000673	0	0
MYOM3	127294	broad.mit.edu	37	1	24413209	24413209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:24413209C>T	ENST00000330966.7	-	15	1888	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M	MYOM3_ENST00000329601.7_Missense_Mutation_p.V575M|MYOM3_ENST00000374434.3_Missense_Mutation_p.V575M|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	575	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGCTCGCACTCTGAAGACA	0.617000													43	57					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48631024	48631024	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48631024G>A	ENST00000328333.8	-	3	479	c.372C>T	c.(370-372)ctC>ctT	p.L124L	COL7A1_ENST00000454817.1_Silent_p.L124L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	124	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.L124L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCCACATGGAGAATTGCAG	0.602000													44	47					0	0	0.003214	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442131	102442131	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:102442131C>T	ENST00000360184.4	+	2	503	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	113	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGTTAAATCCAATAGGTGAG	0.289000													40	59					0	0	0.002222	0	0
NCR2	9436	broad.mit.edu	37	6	41303997	41303997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:41303997G>A	ENST00000373083.4	+	2	447	c.225G>A	c.(223-225)atG>atA	p.M75I	NCR2_ENST00000373086.3_Missense_Mutation_p.M75I|NCR2_ENST00000373089.5_Missense_Mutation_p.M75I	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	75	Ig-like.		M -> V (in dbSNP:rs9471577).		cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGGACGATGGCTTGGACCT	0.542000													19	79					0	0	0.001216	0	0
CDH9	1007	broad.mit.edu	37	5	26881688	26881688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:26881688C>T	ENST00000231021.4	-	12	2099	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	643					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCAGAGGTTCCTTTTTTCTT	0.398000													6	12					0	0	0.001984	0	0
C2orf40	84417	broad.mit.edu	37	2	106690485	106690485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:106690485G>A	ENST00000409944.1	+	4	394	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	C2orf40_ENST00000238044.3_Missense_Mutation_p.G91S|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	91						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TCTCTACATGGGCTTTGACGA	0.617000													34	60					0	0	0.003755	0	0
DSCAM	1826	broad.mit.edu	37	21	41450784	41450784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:41450784C>T	ENST00000400454.1	-	26	5018	c.4541G>A	c.(4540-4542)aGg>aAg	p.R1514K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1514	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R1514K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCAAAGGGCCTGTACTCTAG	0.562000													16	17					0	0	0.006122	0	0
FLNB	2317	broad.mit.edu	37	3	58107174	58107174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:58107174C>T	ENST00000357272.4	+	20	3235	c.3070C>T	c.(3070-3072)Cct>Tct	p.P1024S	FLNB_ENST00000490882.1_Missense_Mutation_p.P1024S|FLNB_ENST00000358537.3_Missense_Mutation_p.P1024S|FLNB_ENST00000419752.2_Missense_Mutation_p.P855S|FLNB_ENST00000493452.1_Missense_Mutation_p.P855S|FLNB_ENST00000295956.4_Missense_Mutation_p.P1024S|FLNB_ENST00000348383.5_Missense_Mutation_p.P1024S|FLNB_ENST00000429972.2_Missense_Mutation_p.P1024S			O75369	FLNB_HUMAN	filamin B, beta	1024					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGATGGACACCCTGTGCCCGG	0.587000													59	63					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504188	110504188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:110504188G>A	ENST00000378402.5	+	62	10305	c.10201G>A	c.(10201-10203)Gat>Aat	p.D3401N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3401					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)			GAACAGAAAAGATTTAAGTTC	0.338000										HNSCC(38;0.096)			3	4					0	0	0.004672	0	0
TRAV24	28659	broad.mit.edu	37	14	22574082	22574082	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22574082G>A	ENST00000390453.1	+	0	302																											TACATCAAAGGATCCCAGCCT	0.463000													12	10					0	0	0.001368	0	0
ZNF648	127665	broad.mit.edu	37	1	182026956	182026956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:182026956C>T	ENST00000339948.3	-	2	397	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCAGGATTTTCGTGTGTTACT	0.562000													21	43					0	0	0.001523	0	0
PSG5	5673	broad.mit.edu	37	19	43674281	43674281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:43674281C>T	ENST00000599812.1	-	6	1348	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	PSG5_ENST00000407568.1_Missense_Mutation_p.G147E|PSG5_ENST00000366175.3_Missense_Mutation_p.G325E|PSG5_ENST00000342951.6_Missense_Mutation_p.G325E|PSG5_ENST00000407356.1_Missense_Mutation_p.G325E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	325					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACGTCCTATTCCTGAAGGAGC	0.438000													29	47					0	0	0.002836	0	0
TRBV9	28586	broad.mit.edu	37	7	142239579	142239579	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142239579C>T	ENST00000390363.2	-	0	347																											TCCCCCAGCTCCAGAGAGCTC	0.488000													9	35					0	0	0.000673	0	0
ZNF423	23090	broad.mit.edu	37	16	49671485	49671485	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:49671485G>A	ENST00000561648.1	-	4	1631	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZNF423_ENST00000562871.1_Silent_p.F466F|ZNF423_ENST00000262383.2_Silent_p.F526F|ZNF423_ENST00000562520.1_Silent_p.F466F|ZNF423_ENST00000567169.1_Silent_p.F409F|ZNF423_ENST00000563137.2_Silent_p.F466F|ZNF423_ENST00000535559.1_Silent_p.F409F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	526					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTCAGTAAGGAAACCCATGG	0.592000													17	24					0	0	0.004990	0	0
TAF1L	138474	broad.mit.edu	37	9	32630161	32630161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32630161C>T	ENST00000242310.4	-	1	5506	c.5417G>A	c.(5416-5418)aGa>aAa	p.R1806K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1806					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGTTTGGGTCTTATTCCACC	0.493000													15	20					0	0	0.004990	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													22	32					0	0	0.003954	0	0
DPYD	1806	broad.mit.edu	37	1	98039524	98039524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:98039524C>T	ENST00000370192.3	-	11	1231	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	377					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP 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)	TAGCAAGTTCCATCTAAAACA	0.353000													11	11					0	0	0.000978	0	0
GPR110	266977	broad.mit.edu	37	6	46979926	46979926	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:46979926G>A	ENST00000371253.2	-	10	1148	c.933C>T	c.(931-933)ttC>ttT	p.F311F	GPR110_ENST00000283297.5_Silent_p.F114F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCATACTGAAATTCTAGA	0.393000													9	46					0	0	0.004482	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585995	20585995	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:20585995T>A	ENST00000202677.6	-	15	2004	c.1862A>T	c.(1861-1863)gAt>gTt	p.D621V	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	621					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.D621V(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGAAAGTCATCCCAGAGCTC	0.483000													7	9					0	0	0.001984	0	0
PTCH1	5727	broad.mit.edu	37	9	98209359	98209359	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:98209359G>A	ENST00000430669.2	-	23	4566	c.3981C>T	c.(3979-3981)ccC>ccT	p.P1327P	PTCH1_ENST00000375274.2_Silent_p.P1392P|PTCH1_ENST00000331920.6_Silent_p.P1393P|PTCH1_ENST00000429896.2_Silent_p.P1242P|PTCH1_ENST00000418258.1_Silent_p.P1242P|PTCH1_ENST00000421141.1_Silent_p.P1242P|PTCH1_ENST00000437951.1_Silent_p.P1327P			Q13635	PTC1_HUMAN	patched 1	1393					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCCCCCTCGGGGGTTCCGCC	0.682000													43	40					0	0	0.003214	0	0
MMS22L	253714	broad.mit.edu	37	6	97615961	97615961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:97615961G>A	ENST00000275053.4	-	20	3260	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S	MMS22L_ENST00000369251.2_Missense_Mutation_p.P959S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	999					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGATACAAAGGAAGACTTTTC	0.343000													9	15					0	0	0.001368	0	0
DOCK4	9732	broad.mit.edu	37	7	111484899	111484899	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:111484899G>A	ENST00000428084.1	-	25	2928	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	DOCK4_ENST00000437633.1_Silent_p.L886L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	886					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTCCTCAGCAGAATATCCAGC	0.443000													17	31					0	0	0.007413	0	0
THEMIS	387357	broad.mit.edu	37	6	128134784	128134784	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:128134784G>A	ENST00000368250.1	-	5	1263	c.765C>T	c.(763-765)atC>atT	p.I255I	THEMIS_ENST00000537166.1_Silent_p.I299I|THEMIS_ENST00000368248.2_Silent_p.I334I|THEMIS_ENST00000543064.1_Silent_p.I334I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	334	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				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						AGCTAGTGGGGATCAAGAAGT	0.458000													16	15					0	0	0.001523	0	0
RGS22	26166	broad.mit.edu	37	8	101092463	101092463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:101092463G>A	ENST00000360863.6	-	4	432	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	RGS22_ENST00000523437.1_Missense_Mutation_p.P80S|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	80					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCATAAATGGGATTTCGAGGT	0.338000													52	27					0	0	0.003610	0	0
SIM1	6492	broad.mit.edu	37	6	100838966	100838966	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100838966C>T	ENST00000369208.3	-	12	2354	c.1570_splice	c.e12-1	p.G524_splice	SIM1_ENST00000262901.4_Splice_Site_p.G524_splice			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	524	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGACCTCGCCCTAAAAATT	0.383000													20	21					0	0	0.001216	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral to membrane	receptor activity	p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000													38	39					0	0	0.007835	0	0
TRGC1	6966	broad.mit.edu	37	7	38305114	38305114	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:38305114C>T	ENST00000443402.2	-	0	165					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					CTCCTGGGATCCCAGAATCGT	0.418000													32	37					0	0	0.003755	0	0
DNAH3	55567	broad.mit.edu	37	16	21117830	21117830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:21117830C>T	ENST00000261383.3	-	15	2264	c.2265G>A	c.(2263-2265)atG>atA	p.M755I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M755I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	755	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCATAGTCCATCAGGAACT	0.393000													9	8					0	0	0.000673	0	0
NEU4	129807	broad.mit.edu	37	2	242755727	242755727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:242755727G>A	ENST00000391969.2	+	3	757	c.46G>A	c.(46-48)Gag>Aag	p.E16K	NEU4_ENST00000407683.1_Missense_Mutation_p.E16K|NEU4_ENST00000405370.1_Missense_Mutation_p.E16K|NEU4_ENST00000404257.1_Missense_Mutation_p.E28K|NEU4_ENST00000325935.6_Missense_Mutation_p.E29K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	16						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTTCGAGCGGGAGAGGACGGG	0.692000													20	18					0	0	0.002780	0	0
MCTP2	55784	broad.mit.edu	37	15	95022245	95022245	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:95022245G>A	ENST00000357742.4	+	22	2619	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K	MCTP2_ENST00000451018.3_Silent_p.K818K|MCTP2_ENST00000449432.3_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	873					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCCTGCGGAAGAAGCGCAGCG	0.527000													6	7					0	0	0.001984	0	0
TMEM131	23505	broad.mit.edu	37	2	98409003	98409003	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:98409003G>A	ENST00000186436.5	-	31	4218	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1330	Pro-rich.					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						GTTCTGGGTGGGAAGGGTGTG	0.647000													18	15					0	0	0.007413	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669672	131669672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:131669672C>T	ENST00000259324.5	+	3	752	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.P77S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.P77S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	77					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCCCTGGCCCGGAGCCCAC	0.612000													17	30					0	0	0.004990	0	0
FAT2	2196	broad.mit.edu	37	5	150889703	150889703	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:150889703C>A	ENST00000261800.5	-	21	11950	c.11938G>T	c.(11938-11940)Ggg>Tgg	p.G3980W	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3980	EGF-like 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTTCCCAGAGAACTGT	0.532000													42	44					5.75399e-11	1.08424e-10	0.003610	1	0
CMPK2	129607	broad.mit.edu	37	2	7003698	7003698	+	Silent	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:7003698A>G	ENST00000256722.5	-	2	686	c.687T>C	c.(685-687)ttT>ttC	p.F229F	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.F229F|CMPK2_ENST00000458098.1_Silent_p.F229F	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	229					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCAGGAATAAAGGAGGTAC	0.493000													39	56					0	0	0.007835	0	0
PCLO	27445	broad.mit.edu	37	7	82584306	82584306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:82584306C>T	ENST00000423517.2	-	5	6300	c.5963G>A	c.(5962-5964)gGa>gAa	p.G1988E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1988E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1919					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCTCTTCCTTTCTGCTG	0.353000													16	28					0	0	0.004990	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625305	56625305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56625305G>A	ENST00000266980.4	+	2	540	c.247G>A	c.(247-249)Gga>Aga	p.G83R	SLC39A5_ENST00000454355.2_Missense_Mutation_p.G83R	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	83					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGACTGGACGGGCTGC	0.642000													25	28					0	0	0.005443	0	0
IFI6	2537	broad.mit.edu	37	1	27992928	27992928	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:27992928G>A	ENST00000361157.6	-	5	484	c.357C>T	c.(355-357)acC>acT	p.T119T	IFI6_ENST00000362020.4_Silent_p.T123T|IFI6_ENST00000339145.4_Silent_p.T127T	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	119					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATACTTGTGGGTGGCGTAGC	0.527000													38	31					0	0	0.007835	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359860	62359860	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:62359860G>A	ENST00000355522.5	+	2	189	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	16						nucleus											GCCTTCGGCGGAGCGGAGACT	0.647000													10	10					0	0	0.006214	0	0
TMC7	79905	broad.mit.edu	37	16	19034496	19034496	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:19034496C>T	ENST00000421369.3	+	5	918	c.360C>T	c.(358-360)atC>atT	p.I120I	TMC7_ENST00000304381.5_Silent_p.I230I|TMC7_ENST00000569532.1_Silent_p.I230I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	230						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACAGTTATATCATAGACTTGC	0.318000													20	32					0	0	0.001523	0	0
FBXW8	26259	broad.mit.edu	37	12	117402562	117402562	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:117402562C>T	ENST00000455858.2	+	5	613	c.540C>T	c.(538-540)ttC>ttT	p.F180F	FBXW8_ENST00000309909.5_Silent_p.F246F	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	246							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TAGCCCCCTTCCTGGAATCAG	0.512000													34	46					0	0	0.003271	0	0
CDH26	60437	broad.mit.edu	37	20	58559806	58559806	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:58559806C>T	ENST00000348616.4	+	6	954	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CDH26_ENST00000244047.5_Silent_p.F218F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	218	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAAGTGGTTTCCGGGTTGATC	0.373000													49	75					0	0	0.003610	0	0
WFDC12	128488	broad.mit.edu	37	20	43752535	43752535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:43752535C>T	ENST00000372785.3	-	3	305	c.288G>A	c.(286-288)tgG>tgA	p.W96*		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	96					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				acttggcctcccatcctggct	0.562000													9	7					0	0	0.004482	0	0
KCNA4	3739	broad.mit.edu	37	11	30034137	30034137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:30034137C>T	ENST00000328224.6	-	2	1322	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	30						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AAGCCTCTCCCGCTCCCGGGC	0.637000													32	71					0	0	0.006230	0	0
KRT83	3889	broad.mit.edu	37	12	52711714	52711714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:52711714C>T	ENST00000293670.3	-	3	696	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	212	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity	p.E212*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACAAACTCGTTCTCTGCT	0.562000													142	154					0	0	0.003610	0	0
FARS2	10667	broad.mit.edu	37	6	5404775	5404775	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:5404775T>C	ENST00000324331.6	+	3	949	c.612_splice	c.e3-1	p.L205_splice	FARS2_ENST00000274680.4_Splice_Site_p.L205_splice			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	205					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGGTTTACAGTTATTTGCTGG	0.378000													20	50					0	0	0.002299	0	0
TAF1L	138474	broad.mit.edu	37	9	32631374	32631374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32631374C>T	ENST00000242310.4	-	1	4293	c.4204G>A	c.(4204-4206)Gtg>Atg	p.V1402M		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1402					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACAGCGTCACCATAGGGTCT	0.463000													59	96					0	0	0.003610	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176929	114176929	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:114176929G>A	ENST00000259335.4	-	20	2300	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	KIAA0368_ENST00000338205.5_Silent_p.I589I	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGTACAGAACGATCTACAAAC	0.502000													17	9					0	0	0.007413	0	0
ZNF572	137209	broad.mit.edu	37	8	125990020	125990020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125990020C>T	ENST00000319286.5	+	3	1664	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGGGATTTTCCTCATGAATG	0.463000										HNSCC(60;0.17)			21	43					0	0	0.002299	0	0
SPRY1	10252	broad.mit.edu	37	4	124323209	124323209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:124323209C>T	ENST00000394339.2	+	2	803	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	SPRY1_ENST00000339241.1_Missense_Mutation_p.R155W	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	155					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AAGGGCAATCCGGACCCAGCC	0.522000													18	2					0	0	0.007413	0	0
MATN3	4148	broad.mit.edu	37	2	20205629	20205629	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:20205629C>T	ENST00000407540.3	-	2	728	c.666G>A	c.(664-666)gtG>gtA	p.V222V	MATN3_ENST00000421259.2_Silent_p.V222V	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	222	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCCGGTCCACGCCCACAG	0.567000													7	6					0	0	0.001984	0	0
GTPBP1	9567	broad.mit.edu	37	22	39125599	39125599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:39125599C>T	ENST00000216044.5	+	11	2082	c.1849C>T	c.(1849-1851)Cca>Tca	p.P617S		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	617					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AGGAGCACCCCCACCTGGAGA	0.637000													5	0					0	0	0.001168	0	0
EPHB1	2047	broad.mit.edu	37	3	134670461	134670461	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:134670461G>A	ENST00000398015.3	+	3	742	c.372G>A	c.(370-372)aaG>aaA	p.K124K	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	124						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTGCCACCAAGAAGTCAGCCT	0.522000													34	47					0	0	0.004289	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261689	19261689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:19261689G>A	ENST00000328041.6	+	2	426	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	77						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTGACTTCCGAAGATGCCGG	0.542000													19	19					0	0	0.001216	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:77767503G>A	ENST00000521891.2	+	10	8794	c.8346G>A	c.(8344-8346)gaG>gaA	p.E2782E	ZFHX4_ENST00000455469.2_Silent_p.E2737E|ZFHX4_ENST00000050961.6_Silent_p.E2737E|ZFHX4_ENST00000518282.1_Silent_p.E2756E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)			10	14					0	0	0.000673	0	0
TENM3	55714	broad.mit.edu	37	4	183675687	183675687	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:183675687G>A	ENST00000511685.1	+	22	4290	c.4167G>A	c.(4165-4167)gtG>gtA	p.V1389V	TENM3_ENST00000406950.2_Silent_p.V1389V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TTCCCGGAGTGGAATATCCTG	0.493000													12	0					0	0	0.001368	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:92136247G>A	ENST00000256343.3	-	14	1354	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000													32	41					0	0	0.001512	0	0
DNAH5	1767	broad.mit.edu	37	5	13922244	13922244	+	Missense_Mutation	SNP	G	G	A	rs139857637		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:13922244G>A	ENST00000265104.4	-	5	736	c.632C>T	c.(631-633)tCg>tTg	p.S211L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	211	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S211L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTGCACCCGACAGGACGTT	0.532000									Kartagener syndrome				6	11					0	0	0.003080	0	0
OR1S1	219959	broad.mit.edu	37	11	57982533	57982533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57982533C>T	ENST00000309433.6	+	1	317	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAATCCATCTCTTATGAGAGC	0.423000													19	33					0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196681570	196681570	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:196681570C>T	ENST00000312428.6	-	51	9643	c.9543G>A	c.(9541-9543)gaG>gaA	p.E3181E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3181	AAA 5 (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						TCTGAGAAATCTCATTAGCCA	0.398000													34	42					0	0	0.003271	0	0
GIT1	28964	broad.mit.edu	37	17	27903413	27903413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:27903413G>A	ENST00000225394.3	-	14	1684	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	GIT1_ENST00000394869.3_Missense_Mutation_p.P488L|GIT1_ENST00000581348.1_Missense_Mutation_p.P488L|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.P479L	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	479					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAGGTGTGGGCACCGGCCC	0.647000													46	63					0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79254487	79254487	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:79254487G>A	ENST00000264895.6	+	19	2639	c.2199G>A	c.(2197-2199)ggG>ggA	p.G733G	FRAS1_ENST00000325942.6_Silent_p.G733G	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	733					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						CAGACTGTGGGCCTTCCCATG	0.522000													4	0					0	0	0.000248	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:48267238G>A	ENST00000302329.3	+	1	631	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000													25	20					0	0	0.003954	0	0
COL7A1	1294	broad.mit.edu	37	3	48628250	48628250	+	Splice_Site	SNP	C	C	T	rs2229823		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48628250C>T	ENST00000328333.8	-	13	1744		c.e13-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCTCAACCCCTAAGAGAGAA	0.587000													13	27					0	0	0.001855	0	0
ZNF318	24149	broad.mit.edu	37	6	43323708	43323708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:43323708G>A	ENST00000361428.2	-	4	1441	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	ZNF318_ENST00000318149.3_Missense_Mutation_p.P455L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	455					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCAGGAAGGGGACCCCATTG	0.473000													40	62					0	0	0.007835	0	0
KCNH1	3756	broad.mit.edu	37	1	210970979	210970979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:210970979C>T	ENST00000367007.4	-	9	1874	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	KCNH1_ENST00000271751.4_Missense_Mutation_p.E596K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	596					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTCTGGAACTCCATGGCCAGT	0.617000													30	35					0	0	0.002836	0	0
DNAJC16	23341	broad.mit.edu	37	1	15860772	15860772	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:15860772T>C	ENST00000375847.3	+	3	372	c.208T>C	c.(208-210)Ttc>Ctc	p.F70L	DNAJC16_ENST00000375849.1_Missense_Mutation_p.F70L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F70L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	70	J.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGACAAGTTCATTCAAAT	0.403000													36	35					0	0	0.003610	0	0
NISCH	11188	broad.mit.edu	37	3	52525525	52525525	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52525525C>T	ENST00000345716.4	+	20	4034	c.3900C>T	c.(3898-3900)acC>acT	p.T1300T	NISCH_ENST00000479054.1_Silent_p.T1300T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1300					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGAACAAGACCACAGGTACCC	0.612000													15	12					0	0	0.004007	0	0
COBL	23242	broad.mit.edu	37	7	51096086	51096086	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:51096086G>A	ENST00000395542.2	-	12	3137	c.2953C>T	c.(2953-2955)Ctg>Ttg	p.L985L	COBL_ENST00000265136.7_Silent_p.L903L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	903										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCAGCCAGCACTGGCGCC	0.577000													48	43					0	0	0.003610	0	0
LETM1	3954	broad.mit.edu	37	4	1843137	1843137	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:1843137G>A	ENST00000302787.2	-	3	827	c.531C>T	c.(529-531)atC>atT	p.I177I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	177	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCGTGCCGCGATCTTGGTGT	0.602000													10	29					0	0	0.000673	0	0
SCD	6319	broad.mit.edu	37	10	102108102	102108102	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:102108102G>A	ENST00000370355.2	+	2	690	c.310_splice	c.e2+1	p.W103_splice		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	103					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CCTGGCTTTGGGGTAAGCAGC	0.502000													84	8					0	0	0.003610	0	0
HGF	3082	broad.mit.edu	37	7	81350155	81350155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:81350155G>A	ENST00000222390.5	-	10	1403	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	HGF_ENST00000457544.2_Missense_Mutation_p.R388C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	393	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCATTCCCACGATAACAATCT	0.333000													25	28					0	0	0.006320	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	568989	568989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:568989C>T	ENST00000262305.4	+	10	2075	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.P608S|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.P267S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	563	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GTCCTGCACGCCCTGTCTGAA	0.612000													31	47					0	0	0.003271	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642655	127642655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:127642655C>T	ENST00000405109.1	+	2	1218	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.Q251*|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	251										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGACATAATTCAAAATGCATT	0.408000													29	43					0	0	0.002445	0	0
ACTN2	88	broad.mit.edu	37	1	236881217	236881217	+	Silent	SNP	C	C	T	rs34403480	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:236881217C>T	ENST00000366578.4	+	2	352	c.186C>T	c.(184-186)atC>atT	p.I62I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.I62I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	62	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTGAGAACATCGAGGAAGACT	0.468000													11	14					0	0	0.001368	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054219	95054219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:95054219G>A	ENST00000329597.7	+	3	730	c.520G>A	c.(520-522)Gat>Aat	p.D174N	SERPINA5_ENST00000554276.1_Missense_Mutation_p.D174N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D174N|SERPINA5_ENST00000554866.1_Missense_Mutation_p.D174N	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	174					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCAGATCAATGATTATGTGGC	0.478000													38	51					0	0	0.004878	0	0
GNAZ	2781	broad.mit.edu	37	22	23465354	23465354	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:23465354C>T	ENST00000248996.4	+	3	1470	c.804C>T	c.(802-804)ttC>ttT	p.F268F	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	268						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCCTCTTCCTGAACAAGA	0.552000													35	5					0	0	0.001951	0	0
IKZF3	22806	broad.mit.edu	37	17	37922133	37922133	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:37922133G>A	ENST00000346872.3	-	8	1501	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	IKZF3_ENST00000351680.3_Silent_p.F441F|IKZF3_ENST00000583368.1_Silent_p.F233F|IKZF3_ENST00000346243.3_Silent_p.F402F|IKZF3_ENST00000377952.2_Silent_p.F259F|IKZF3_ENST00000377945.3_Silent_p.F346F|IKZF3_ENST00000377944.3_Silent_p.F337F|IKZF3_ENST00000377958.2_Silent_p.F393F|IKZF3_ENST00000535189.1_Silent_p.F446F|IKZF3_ENST00000467757.1_Silent_p.F424F|IKZF3_ENST00000439016.2_Silent_p.F385F|IKZF3_ENST00000350532.3_Silent_p.F441F|IKZF3_ENST00000439167.2_Silent_p.F407F|IKZF3_ENST00000394189.2_Silent_p.F298F	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	480					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTACACTCGAAAGGGTCAC	0.517000													38	42					0	0	0.006999	0	0
ELTD1	64123	broad.mit.edu	37	1	79470895	79470895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:79470895G>A	ENST00000370742.3	-	2	95	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S11F(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAACAAAGTGGAAAAAACCAC	0.323000													26	30					0	0	0.004656	0	0
KLHL1	57626	broad.mit.edu	37	13	70681651	70681651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:70681651C>T	ENST00000377844.4	-	1	940	c.181G>A	c.(181-183)Gag>Aag	p.E61K	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	61	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCTTCTCTCTTGGCTTTTG	0.612000													36	53					0	0	0.002852	0	0
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143826661C>T	ENST00000408899.2	+	1	511	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F152F(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532000													53	78					0	0	0.003610	0	0
NDOR1	27158	broad.mit.edu	37	9	140109922	140109922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:140109922C>T	ENST00000371521.4	+	10	1320	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	NDOR1_ENST00000458322.2_Missense_Mutation_p.P406S|NDOR1_ENST00000427047.2_Missense_Mutation_p.P379S|NDOR1_ENST00000344894.5_Missense_Mutation_p.P413S	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	413	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTCAAGGAGCCCCGCCGGGG	0.687000													29	36					0	0	0.005524	0	0
VTN	7448	broad.mit.edu	37	17	26696364	26696364	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:26696364G>A	ENST00000226218.4	-	4	1233	c.615C>T	c.(613-615)ccC>ccT	p.P205P	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	205					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CGGCATCGATGGGGCCCTCGA	0.587000													19	30					0	0	0.001882	0	0
CARD11	84433	broad.mit.edu	37	7	2946452	2946452	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:2946452C>T	ENST00000396946.4	-	25	3688	c.3285G>A	c.(3283-3285)acG>acA	p.T1095T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1095	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACTCCTCCTCCGTCTCAGGTC	0.682000			Mis		DLBCL								22	10					0	0	0.003954	0	0
PNISR	25957	broad.mit.edu	37	6	99860603	99860603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:99860603C>T	ENST00000369239.5	-	4	305	c.101G>A	c.(100-102)tGg>tAg	p.W34*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.W34*|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	34	Gln-rich.			W -> R (in Ref. 2; BAB55350).		nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAATGCAGCCCAATCAATCTG	0.423000													12	12					0	0	0.001855	0	0
GPN1	11321	broad.mit.edu	37	2	27851912	27851912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:27851912G>A	ENST00000264718.3	+	1	50	c.29G>A	c.(28-30)gGg>gAg	p.G10E	GPN1_ENST00000458167.2_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000515877.1_Intron|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000424214.1_Intron|GPN1_ENST00000407583.3_Intron	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	0						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGGGTGGGTGGGGCCAGGAGG	0.627000													29	32					0	0	0.007291	0	0
OR10G3	26533	broad.mit.edu	37	14	22038596	22038596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22038596G>A	ENST00000303532.1	-	1	279	c.280C>T	c.(280-282)Cca>Tca	p.P94S		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CCACCAAATGGGATGGGTTTG	0.473000													16	29					0	0	0.006122	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248039313G>A	ENST00000366481.3	+	6	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	328	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCCTGAGCGATTTGACACA	0.602000													14	20					0	0	0.001855	0	0
COL5A2	1290	broad.mit.edu	37	2	189926325	189926325	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:189926325C>A	ENST00000374866.3	-	30	2268	c.1994G>T	c.(1993-1995)aGa>aTa	p.R665I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	665					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGTTCTCCTCTTTCACCAGC	0.383000													11	12					2.32078e-09	4.36227e-09	0.003163	1	0
KCNJ15	3772	broad.mit.edu	37	21	39671204	39671204	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:39671204C>T	ENST00000398930.1	+	4	375	c.21C>T	c.(19-21)ggC>ggT	p.G7G	KCNJ15_ENST00000398938.2_Silent_p.G7G|KCNJ15_ENST00000398934.1_Silent_p.G7G|KCNJ15_ENST00000328656.3_Silent_p.G7G|KCNJ15_ENST00000398932.1_Silent_p.G7G			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	7					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TTCACATCGGCATGTCCAGCA	0.517000													15	22					0	0	0.004007	0	0
MPI	4351	broad.mit.edu	37	15	75189490	75189490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:75189490G>A	ENST00000352410.4	+	7	1050	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MPI_ENST00000323744.6_Missense_Mutation_p.R267Q|MPI_ENST00000563786.1_Missense_Mutation_p.R308Q|MPI_ENST00000535694.1_Missense_Mutation_p.R278Q|MPI_ENST00000566377.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	328					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTCCCAACACGGAGTCAGGAA	0.537000													35	58					0	0	0.006999	0	0
PMPCA	23203	broad.mit.edu	37	9	139317583	139317583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:139317583C>T	ENST00000371717.3	+	13	1454	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	PMPCA_ENST00000399219.3_Missense_Mutation_p.S351F	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	482					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AGAGTCGCTTCTAAGATGCTC	0.632000													12	18					0	0	0.001855	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021343	51021343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:51021343G>A	ENST00000599957.1	-	3	1824	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P543S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	543						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGAGCGCGGGGCGGGTGCC	0.697000													12	19					0	0	0.001855	0	0
AMPD3	272	broad.mit.edu	37	11	10527309	10527309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:10527309G>A	ENST00000444303.2	+	14	2177	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	AMPD3_ENST00000396554.3_Missense_Mutation_p.D737N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	728					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAAGGAAATGATATTCGAAA	0.373000													29	41					0	0	0.001786	0	0
DSC3	1825	broad.mit.edu	37	18	28576969	28576969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28576969G>A	ENST00000434452.1	-	15	2435	c.2281C>T	c.(2281-2283)Caa>Taa	p.Q761*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Q761*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	761					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAAAAACCTTGGCTAGAGTTG	0.408000													6	13					0	0	0.001984	0	0
OR7G1	125962	broad.mit.edu	37	19	9226038	9226038	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9226038G>A	ENST00000293614.1	-	1	401	c.402C>T	c.(400-402)gtC>gtT	p.V134V	OR7G1_ENST00000541538.1_Silent_p.V134V			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CATTCATGAGGACTGTGTACC	0.493000													43	108					0	0	0.003214	0	0
KRT10	3858	broad.mit.edu	37	17	38978704	38978704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:38978704C>T	ENST00000269576.5	-	1	143	c.134G>A	c.(133-135)gGa>gAa	p.G45E	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	45	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCTAAATCCTCCACCAAGGGA	0.577000													14	19					0	0	0.001855	0	0
EPHA6	285220	broad.mit.edu	37	3	97251213	97251213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:97251213G>A	ENST00000389672.5	+	11	2250	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	EPHA6_ENST00000502694.1_Missense_Mutation_p.E130K|EPHA6_ENST00000514100.1_Missense_Mutation_p.E130K|EPHA6_ENST00000442602.2_Missense_Mutation_p.E104K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	643	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAATTTGGAGAAGTCTGTAG	0.378000													6	8					0	0	0.003080	0	0
POU6F2	11281	broad.mit.edu	37	7	39247156	39247156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:39247156C>T	ENST00000518318.2	+	4	490	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q150*|POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q142*			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	150					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACCAACATCCAAGGGCTGGT	0.542000													8	18					0	0	0.003080	0	0
OR4X2	119764	broad.mit.edu	37	11	48266760	48266760	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:48266760C>T	ENST00000302329.3	+	1	153	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGGAATTTCCTCATTGTGC	0.473000													18	19					0	0	0.006122	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608932	84608932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:84608932G>A	ENST00000344803.2	+	4	3594	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAATGAAACTGAAATTTTCCC	0.403000													15	16					0	0	0.002450	0	0
WSCD2	9671	broad.mit.edu	37	12	108603912	108603912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:108603912G>A	ENST00000332082.4	+	5	1330	c.512G>A	c.(511-513)gGc>gAc	p.G171D	WSCD2_ENST00000547525.1_Missense_Mutation_p.G171D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G171D|WSCD2_ENST00000549903.1_Missense_Mutation_p.G171D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	171	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACCTGTATGGCGGGCTGGAG	0.652000													15	17					0	0	0.006122	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473351	22473351	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22473351C>T	ENST00000557788.2	-	0	2																											ACAGGTGTTTCATGTTCTTGT	0.512000													6	24					0	0	0.003080	0	0
AADACL3	126767	broad.mit.edu	37	1	12785762	12785762	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:12785762C>T	ENST00000332530.3	+	3	868	c.642C>T	c.(640-642)atC>atT	p.I214I	AADACL3_ENST00000359318.5_Silent_p.I284I	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	284							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCTGCATCGTGAGCTGTG	0.512000													20	30					0	0	0.001523	0	0
PTPRB	5787	broad.mit.edu	37	12	71029730	71029730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:71029730C>T	ENST00000334414.6	-	2	216	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	PTPRB_ENST00000551525.1_Missense_Mutation_p.E57K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E58K|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGAGCTTTTCATCCTCAGTC	0.532000													8	2					0	0	0.003080	0	0
OTOGL	283310	broad.mit.edu	37	12	80761412	80761412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:80761412G>A	ENST00000458043.2	+	53	6382	c.6376G>A	c.(6376-6378)Gaa>Aaa	p.E2126K	OTOGL_ENST00000546620.1_Missense_Mutation_p.E145K|OTOGL_ENST00000547103.1_Missense_Mutation_p.E2114K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAGTATTTGGAAGAAGACTT	0.328000													3	3					0	0	0.000248	0	0
ZAN	7455	broad.mit.edu	37	7	100352875	100352875	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:100352875G>A	ENST00000542585.1	+	0	3299				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCCGCTACGAATCCTGTGC	0.567000													94	129					0	0	0.003610	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841832	36841832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:36841832C>T	ENST00000279024.4	-	14	3486	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1072										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCCACCCCTCTTCGTTC	0.602000													7	5					0	0	0.001984	0	0
UNC13D	201294	broad.mit.edu	37	17	73831793	73831793	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73831793C>T	ENST00000207549.4	-	19	2041	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	UNC13D_ENST00000412096.2_Silent_p.E554E	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	554					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACAGACTCTCGCCCATCT	0.632000									Familial Hemophagocytic Lymphohistiocytosis				34	24					0	0	0.006230	0	0
FBXO34	55030	broad.mit.edu	37	14	55818286	55818286	+	Missense_Mutation	SNP	C	C	T	rs149853453		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:55818286C>T	ENST00000313833.4	+	2	1423	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	FBXO34_ENST00000440021.1_Missense_Mutation_p.S393L	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	393										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCCGGGTTCGCAAACTGCC	0.512000													25	13					0	0	0.003330	0	0
CERKL	375298	broad.mit.edu	37	2	182468748	182468748	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:182468748G>A	ENST00000410087.3	-	2	397	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CERKL_ENST00000409440.3_Silent_p.F99F|CERKL_ENST00000339098.5_Silent_p.F99F|CERKL_ENST00000374969.2_Silent_p.F99F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Silent_p.F99F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	99					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|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)			GTTTCACAGAGAATATGTCTT	0.313000													8	5					0	0	0.004482	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884796	160884796	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:160884796C>T	ENST00000283243.7	-	6	1238	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	PLA2R1_ENST00000392771.1_Silent_p.R344R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	344	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTCACAATCCCGACTCCTCC	0.348000													35	58					0	0	0.002522	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209197	71209197	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:71209197G>A	ENST00000554752.2	-	6	1437	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	MAP3K9_ENST00000554146.1_Silent_p.L217L|MAP3K9_ENST00000553414.1_Silent_p.L174L|MAP3K9_ENST00000381250.4_Silent_p.L480L|MAP3K9_ENST00000555993.2_Silent_p.L480L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	480	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCCGTTCCAGGATGTCAATC	0.617000													16	24					0	0	0.007413	0	0
GLP2R	9340	broad.mit.edu	37	17	9774075	9774075	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:9774075C>T	ENST00000262441.5	+	10	1581	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	GLP2R_ENST00000574745.1_Silent_p.F176F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	356					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCAATTTCTTCATCTTCCTGA	0.418000													89	161					0	0	0.003610	0	0
ENOX2	10495	broad.mit.edu	37	X	129771274	129771274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:129771274G>A	ENST00000338144.3	-	12	1744	c.1327C>T	c.(1327-1329)Cac>Tac	p.H443Y	ENOX2_ENST00000394363.1_Missense_Mutation_p.H414Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.H414Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.H443Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	443					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TCTTCTCTGTGGACTTTGCCT	0.478000													95	15					0	0	0.003610	0	0
SYAP1	94056	broad.mit.edu	37	X	16761838	16761838	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:16761838C>T	ENST00000380155.3	+	5	543	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	150										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGAATTTCCTTCGTGACC	0.413000													59	13					0	0	0.003610	0	0
KCNT1	57582	broad.mit.edu	37	9	138675892	138675892	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:138675892A>G	ENST00000298480.5	+	25	2938	c.2864A>G	c.(2863-2865)aAc>aGc	p.N955S	KCNT1_ENST00000371757.2_Missense_Mutation_p.N955S|KCNT1_ENST00000487664.1_Missense_Mutation_p.N910S|KCNT1_ENST00000490355.2_Missense_Mutation_p.N934S|KCNT1_ENST00000488444.2_Missense_Mutation_p.N936S|KCNT1_ENST00000486577.2_Missense_Mutation_p.N914S|KCNT1_ENST00000263604.3_Missense_Mutation_p.N936S|KCNT1_ENST00000491806.2_Missense_Mutation_p.N922S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	955						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AATGGCTCCAACCTGGCCTTC	0.662000													24	28					0	0	0.002780	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:24201063C>T	ENST00000265769.4	+	18	2066	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.I399I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000													9	5					0	0	0.000978	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278593	100278593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:100278593A>G	ENST00000338687.7	-	7	1292	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	TRMT2B_ENST00000372936.3_Missense_Mutation_p.F208L|TRMT2B_ENST00000372939.1_Missense_Mutation_p.F163L|TRMT2B_ENST00000545398.1_Missense_Mutation_p.F208L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.F208L|TRMT2B_ENST00000372935.1_Missense_Mutation_p.F208L|TRMT2B_ENST00000478422.1_5'UTR			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	208							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTCGAAGGAATACTTCATAG	0.448000													15	1					0	0	0.002450	0	0
OR4M2	390538	broad.mit.edu	37	15	22369401	22369401	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22369401T>C	ENST00000332663.2	+	1	924	c.826T>C	c.(826-828)Ttc>Ctc	p.F276L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGTGTCTGTGTTCAATACTTT	0.383000													19	22					0	0	0.007413	0	0
CLASP1	23332	broad.mit.edu	37	2	122106150	122106150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:122106150C>T	ENST00000263710.4	-	38	4740	c.4351G>A	c.(4351-4353)Gag>Aag	p.E1451K	CLASP1_ENST00000541377.1_Missense_Mutation_p.E1390K|CLASP1_ENST00000541859.1_Missense_Mutation_p.E1168K|CLASP1_ENST00000545861.1_Missense_Mutation_p.E1158K|CLASP1_ENST00000455322.2_Missense_Mutation_p.E1407K|CLASP1_ENST00000409078.3_Missense_Mutation_p.E1384K|CLASP1_ENST00000397587.3_Missense_Mutation_p.E1391K	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1451	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCGATCCTCTCGACGACTTTG	0.602000													12	18					0	0	0.003163	0	0
OR2L13	284521	broad.mit.edu	37	1	248263493	248263493	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248263493C>T	ENST00000366478.2	+	3	1153	c.816C>T	c.(814-816)atC>atT	p.I272I	OR2L13_ENST00000358120.2_Silent_p.I272I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AAGACAAGATCCTGGCAGTCT	0.473000													26	30					0	0	0.004656	0	0
COL19A1	1310	broad.mit.edu	37	6	70745815	70745815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:70745815G>A	ENST00000322773.4	+	14	1256	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	385	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCCCCAGGACCACCAGCC	0.328000													21	17					0	0	0.002780	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786602	128786602	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:128786602C>T	ENST00000529694.1	+	3	1612	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	KCNJ5_ENST00000533599.1_Silent_p.S412S|KCNJ5_ENST00000338350.4_Silent_p.S412S	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	412					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGGTGGGTCCAGGGAGGCCA	0.652000													5	1					0	0	0.000602	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473000													17	63					0	0	0.006122	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508412	102508412	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:102508412C>T	ENST00000360184.4	+	66	12329	c.12165C>T	c.(12163-12165)gtC>gtT	p.V4055V	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4055	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGACATGTCGAGGACCTTG	0.517000													20	37					0	0	0.002299	0	0
SHD	56961	broad.mit.edu	37	19	4288330	4288330	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:4288330C>T	ENST00000543264.2	+	5	2270	c.807C>T	c.(805-807)acC>acT	p.T269T	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	269	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGAGACCAACCCCCAGG	0.572000													16	32					0	0	0.004007	0	0
F13B	2165	broad.mit.edu	37	1	197032004	197032004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:197032004G>A	ENST00000367412.1	-	2	291	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	83	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCTTGGCTCTGGAGACCAGCC	0.383000													15	28					0	0	0.003163	0	0
MICB	4277	broad.mit.edu	37	6	31475269	31475269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31475269C>T	ENST00000252229.6	+	5	1064	c.985C>T	c.(985-987)Cct>Tct	p.P329S	MICB_ENST00000538442.1_Missense_Mutation_p.P297S|MICB_ENST00000399150.3_Missense_Mutation_p.P286S	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	329					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TCTCTGTGTCCCTTGTTGCAA	0.463000													30	144					0	0	0.001786	0	0
HLA-F	3134	broad.mit.edu	37	6	29693014	29693014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:29693014G>A	ENST00000440587.2	+	4	822	c.463G>A	c.(463-465)Gga>Aga	p.G155R	HLA-F_ENST00000376861.1_Missense_Mutation_p.G273R|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.G273R|HLA-F_ENST00000259951.7_Missense_Mutation_p.G273R			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	273	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGTGCCTCCTGGAGAGGAACA	0.617000													30	61					0	0	0.002445	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475536	140475536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140475536C>T	ENST00000194155.4	+	1	1310	c.1162C>T	c.(1162-1164)Caa>Taa	p.Q388*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTCCATCCAAGATGATCT	0.468000													31	25					0	0	0.001786	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924846	10924846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:10924846C>T	ENST00000283141.6	+	15	1486	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.S238F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	397						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCACAAGTTtccattcaagct	0.308000													17	45					0	0	0.004990	0	0
TRPM6	140803	broad.mit.edu	37	9	77435218	77435218	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77435218A>C	ENST00000451710.3	-	9	1372		c.e9+1		TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Splice_Site			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CGTCATACTCACACAATCCCT	0.343000													16	13					0	0	0.007413	0	0
COL5A1	1289	broad.mit.edu	37	9	137710734	137710734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:137710734C>T	ENST00000371817.3	+	56	4793	c.4379C>T	c.(4378-4380)cCc>cTc	p.P1460L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1460	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGACGGTCCCCCCGGCCCC	0.632000													7	33					0	0	0.003080	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669784	48669784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48669784G>A	ENST00000358747.6	-	4	666	c.416C>T	c.(415-417)tCc>tTc	p.S139F	SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Missense_Mutation_p.S160F|SLC26A6_ENST00000395550.2_Missense_Mutation_p.S160F|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000383733.3_Missense_Mutation_p.S160F	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CGGGGCCAGGGATTCTGTCAC	0.607000													20	14					0	0	0.001523	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312380	68312380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:68312380C>T	ENST00000393799.2	+	4	569	c.302C>T	c.(301-303)tCc>tTc	p.S101F	PPP6R3_ENST00000524845.1_Missense_Mutation_p.S101F|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S101F|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S10F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S101F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S101F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S101F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S101F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S101F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S101F			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	101					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAAGATGAATCCTTGCTAATG	0.383000													18	34					0	0	0.001523	0	0
SMAD6	4091	broad.mit.edu	37	15	67073794	67073794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:67073794G>A	ENST00000288840.5	+	4	2443	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D	SMAD6_ENST00000338426.4_Missense_Mutation_p.G210D	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	471	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						TTCGCCAAGGGCTGGGGGCCC	0.706000													11	19					0	0	0.000673	0	0
IGSF5	150084	broad.mit.edu	37	21	41143006	41143006	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:41143006C>T	ENST00000380588.4	+	4	685	c.582C>T	c.(580-582)agC>agT	p.S194S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	194	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CGGAGCCCAGCGACCTTCAAA	0.557000													7	9					0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79034731	79034731	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79034731G>A	ENST00000446378.2	+	2	10174	c.10143G>A	c.(10141-10143)gaG>gaA	p.E3381E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3381						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTTCCCGGAGGAAGAATTTG	0.478000													9	3					0	0	0.006214	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650688	75650688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:75650688C>T	ENST00000361470.2	+	1	2643	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	789	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R789C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCTGAATCGTGCTGCCCG	0.473000													45	10					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113697808	113697808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:113697808G>A	ENST00000297405.5	-	15	2553	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S666F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S730F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S770F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	770	CUB 4.					integral to membrane|plasma membrane		p.S730C(1)|p.S770C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAAACTGGGATTCCAGGTC	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	22					0	0	0.000673	0	0
CUX2	23316	broad.mit.edu	37	12	111785947	111785947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:111785947G>A	ENST00000261726.6	+	22	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(1)		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						CCCACCTGGCGCCCCCCCTGC	0.657000													32	31					0	0	0.001786	0	0
FLG	2312	broad.mit.edu	37	1	152277508	152277508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:152277508C>T	ENST00000368799.1	-	3	9889	c.9854G>A	c.(9853-9855)gGa>gAa	p.G3285E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3285	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCCTGTCCACCAGAGGA	0.587000									Ichthyosis				108	153					0	0	0.003610	0	0
NID1	4811	broad.mit.edu	37	1	236205349	236205349	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:236205349G>A	ENST00000264187.6	-	4	1078	c.996C>T	c.(994-996)ctC>ctT	p.L332L	NID1_ENST00000366595.3_Silent_p.L332L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	332					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCGCGGGGAGAGGACGCTGG	0.622000													29	29					0	0	0.002096	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763740	6763740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:6763740C>T	ENST00000245908.6	-	2	289	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SH2D3A_ENST00000437152.3_Missense_Mutation_p.E2K	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	7					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AAGGTCTTCTCCATCCTGTGG	0.602000													28	93					0	0	0.002096	0	0
OR51D1	390038	broad.mit.edu	37	11	4661965	4661965	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4661965C>T	ENST00000357605.2	+	1	1021	c.945C>T	c.(943-945)gtC>gtT	p.V315V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAAGGGTCCTCTGTATGT	0.468000													18	4					0	0	0.007413	0	0
ITLN2	142683	broad.mit.edu	37	1	160917755	160917755	+	Silent	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:160917755A>G	ENST00000368029.3	-	7	846	c.789T>C	c.(787-789)tgT>tgC	p.C263C	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	263	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTATCCCAGCACAAAGGGCGT	0.453000													15	34					0	0	0.006122	0	0
C6orf89	221477	broad.mit.edu	37	6	36887380	36887380	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36887380C>T	ENST00000480824.2	+	8	1146	c.852C>T	c.(850-852)atC>atT	p.I284I	C6orf89_ENST00000355190.3_Silent_p.I291I|C6orf89_ENST00000510325.2_Silent_p.I178I|C6orf89_ENST00000373685.1_Silent_p.I284I|C6orf89_ENST00000359359.2_Silent_p.I178I			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	284						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTATTTATCATTGGCAGCG	0.483000													36	237					0	0	0.002222	0	0
OR2L3	391192	broad.mit.edu	37	1	248224273	248224273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248224273G>A	ENST00000359959.3	+	1	290	c.290G>A	c.(289-291)gGg>gAg	p.G97E	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACTGGGTGTGGGATTCAGAGT	0.438000													36	48					0	0	0.002522	0	0
C3P1	388503	broad.mit.edu	37	19	10157465	10157465	+	RNA	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:10157465T>C	ENST00000495140.1	+	0	1064																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCGGACCTTGTTCCCCGAGAG	0.527000													101	46					0	0	0.003610	0	0
XKR4	114786	broad.mit.edu	37	8	56436225	56436225	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:56436225C>T	ENST00000327381.5	+	3	1492	c.1392C>T	c.(1390-1392)atC>atT	p.I464I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	464						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATTTTGTGATCCTTTTGGAAA	0.473000													22	53					0	0	0.001523	0	0
ENPEP	2028	broad.mit.edu	37	4	111441401	111441401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:111441401G>A	ENST00000265162.5	+	10	1948	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	536					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAAGTAATGGACACCTGGAC	0.383000													12	1					0	0	0.001368	0	0
TNXB	7148	broad.mit.edu	37	6	32037545	32037545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:32037545G>A	ENST00000375244.3	-	15	5573	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F	TNXB_ENST00000375247.2_Missense_Mutation_p.S1791F			P22105	TENX_HUMAN	tenascin XB	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S1878F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCCCACGGAGTTCTGGGT	0.617000													554	184					0	0	0.003610	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786282	127786282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:127786282C>T	ENST00000243253.3	+	10	1178	c.994C>T	c.(994-996)Cca>Tca	p.P332S	SEC61A1_ENST00000424880.2_Missense_Mutation_p.P212S|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P338S|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	332					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TTCTGGGGGCCCAGCACGTGC	0.483000													46	68					0	0	0.003610	0	0
C5orf20	140947	broad.mit.edu	37	5	134782085	134782085	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:134782085C>T	ENST00000503143.2	-	1	953	c.714G>A	c.(712-714)agG>agA	p.R238R	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	238						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGGCTGCCCTGCGGTGGG	0.552000													17	81					0	0	0.001523	0	0
CCR8	1237	broad.mit.edu	37	3	39373976	39373976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39373976G>A	ENST00000326306.4	+	2	292	c.154G>A	c.(154-156)Gga>Aga	p.G52R	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	52					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAGTCTTCTGGGAAACAGCCT	0.473000													8	24					0	0	0.004482	0	0
OR1F1	4992	broad.mit.edu	37	16	3254666	3254666	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:3254666C>T	ENST00000304646.2	+	1	420	c.420C>T	c.(418-420)ctC>ctT	p.L140L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCATCAGCTCTGTGCCCTGC	0.527000													36	53					0	0	0.005524	0	0
AGBL1	123624	broad.mit.edu	37	15	86807702	86807702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:86807702C>T	ENST00000441037.2	+	10	1257	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	AGBL1_ENST00000421325.2_Missense_Mutation_p.P388S|AGBL1_ENST00000389298.3_Missense_Mutation_p.P119S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	388					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.P388S(1)		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						CAAAAAAAATCCTGGAGTGAA	0.478000													10	10					0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858671	9858671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:9858671C>T	ENST00000396573.2	-	14	3039	c.2730G>A	c.(2728-2730)atG>atA	p.M910I	GRIN2A_ENST00000396575.2_Missense_Mutation_p.M910I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M910I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M753I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M910I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M910I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	910					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAGGAGTTCATGTTGGACA	0.443000													30	28					0	0	0.002096	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750337	79750337	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:79750337C>T	ENST00000305428.3	+	2	1923	c.1848C>T	c.(1846-1848)gtC>gtT	p.V616V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	616						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTCGGGTGTCCGTGATGAAA	0.483000													21	19					0	0	0.001216	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552891	140552891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140552891G>A	ENST00000231137.3	+	1	649	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		159	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D159N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTGCACAGGATTCAGATGT	0.448000													21	51					0	0	0.001882	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774095	52774095	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:52774095C>T	ENST00000216862.3	-	10	1659	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Silent_p.L280L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	422					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CACTGGATCCCAACACCTGGG	0.383000													37	39					0	0	0.007835	0	0
RBM46	166863	broad.mit.edu	37	4	155719284	155719284	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:155719284T>G	ENST00000510397.1	+	3	652	c.473T>G	c.(472-474)tTa>tGa	p.L158*	RBM46_ENST00000281722.3_Nonsense_Mutation_p.L158*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.L158*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	158	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAGAAATTTTAGATGAAATG	0.343000													33	9					0	0	0.003755	0	0
PIF1	80119	broad.mit.edu	37	15	65110472	65110472	+	Silent	SNP	G	G	A	rs144483518		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:65110472G>A	ENST00000268043.4	-	10	1606	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	PIF1_ENST00000559239.1_Silent_p.F504F|PIF1_ENST00000333425.6_Silent_p.F504F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	504	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTTCTGCCTCGAACCCAACTA	0.582000													20	22					0	0	0.004656	0	0
AKAP3	10566	broad.mit.edu	37	12	4736484	4736484	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:4736484G>A	ENST00000545990.2	-	5	2108	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	AKAP3_ENST00000228850.1_Silent_p.I528I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	528					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGCAGACACGATCAGGTCCT	0.517000													8	1					0	0	0.004482	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514504	161514504	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:161514504G>A	ENST00000367969.3	-	4	855	c.672C>T	c.(670-672)atC>atT	p.I224I	FCGR3A_ENST00000436743.1_Silent_p.I188I|FCGR3A_ENST00000443193.1_Silent_p.I223I|FCGR3A_ENST00000540048.1_Silent_p.I188I	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	188					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTGATGGTGATGTTCACAG	0.507000													11	12					0	0	0.004990	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	C	T	rs139135884	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57947582C>T	ENST00000335397.3	+	3	982	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000													10	14					0	0	0.006214	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216695	134216695	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:134216695G>A	ENST00000359579.4	+	3	590	c.270G>A	c.(268-270)agG>agA	p.R90R	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	90					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCCTTGTGAGGAAAGCCTTTG	0.458000													20	32					0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43699390	43699390	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:43699390A>C	ENST00000405312.3	-	4	982	c.745T>G	c.(745-747)Tta>Gta	p.L249V	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.L156V	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	249	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTGGGGTTTAAGTTGTTGATT	0.453000													70	85					0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	124008655	124008655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:124008655G>A	ENST00000369005.1	+	21	8984	c.8644G>A	c.(8644-8646)Gag>Aag	p.E2882K	TACC2_ENST00000369004.3_Missense_Mutation_p.E942K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2809K|TACC2_ENST00000360561.3_Missense_Mutation_p.E930K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2760K|TACC2_ENST00000369000.1_Missense_Mutation_p.E505K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2882K|TACC2_ENST00000358010.1_Missense_Mutation_p.E1028K|TACC2_ENST00000369001.1_Missense_Mutation_p.E509K|TACC2_ENST00000513429.1_Missense_Mutation_p.E1028K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2809K|TACC2_ENST00000368999.1_Missense_Mutation_p.E972K|TACC2_ENST00000260733.3_Missense_Mutation_p.E960K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2882						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)				GGTGCACGCGGAGGAGAAACT	0.607000													21	1					0	0	0.001882	0	0
SPZ1	84654	broad.mit.edu	37	5	79616905	79616905	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79616905A>G	ENST00000296739.4	+	1	1116	c.871A>G	c.(871-873)Acc>Gcc	p.T291A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CGGTTTCCAAACCCAGCCAAA	0.413000													30	26					0	0	0.001786	0	0
GRM8	2918	broad.mit.edu	37	7	126173718	126173718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:126173718G>A	ENST00000339582.2	-	9	2526	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.P573L|GRM8_ENST00000444921.2_Missense_Mutation_p.P573L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	573					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTGATGATGGGGATAAGCTG	0.517000										HNSCC(24;0.065)			12	16					0	0	0.000978	0	0
CDH18	1016	broad.mit.edu	37	5	19473520	19473520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:19473520G>A	ENST00000507958.1	-	15	3178	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	CDH18_ENST00000382275.1_Missense_Mutation_p.P730S|CDH18_ENST00000274170.4_Missense_Mutation_p.P730S|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCATAAGGGGGAACGCTAGGG	0.493000													8	19					0	0	0.003080	0	0
VTN	7448	broad.mit.edu	37	17	26696365	26696365	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:26696365G>T	ENST00000226218.4	-	4	1232	c.614C>A	c.(613-615)cCc>cAc	p.P205H	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	205					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGCATCGATGGGGCCCTCGAT	0.587000													20	29					4.26978e-12	8.05568e-12	0.003330	1	0
KIAA0100	9703	broad.mit.edu	37	17	26960076	26960076	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:26960076C>A	ENST00000528896.2	-	20	3763	c.3689G>T	c.(3688-3690)cGg>cTg	p.R1230L	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1087L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1087L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1230						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCTGGGGCCCGCAGAGTGAC	0.587000													5	21					0.00116845	0.00218813	0.001168	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58565251	58565251	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:58565251G>A	ENST00000282326.1	+	6	1306	c.1059G>A	c.(1057-1059)cgG>cgA	p.R353R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCCCCGGAGCAAGGGCC	0.662000													13	12					0	0	0.002450	0	0
NPY1R	4886	broad.mit.edu	37	4	164246466	164246466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164246466C>T	ENST00000296533.2	-	3	1675	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	NPY1R_ENST00000509586.1_Missense_Mutation_p.E139K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	382					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATTTTTTCATTATCATCA	0.378000													31	7					0	0	0.002445	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910783	230910783	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:230910783G>A	ENST00000295190.4	-	4	1517	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	353						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACGTCAGAGGGAAAACGTCGT	0.428000													23	31					0	0	0.002780	0	0
OR2A2	442361	broad.mit.edu	37	7	143807322	143807322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143807322C>T	ENST00000408979.2	+	1	716	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATTCTGGTCTCCTACATGCAC	0.537000													4	16					0	0	0.000602	0	0
PGC	5225	broad.mit.edu	37	6	41711064	41711064	+	Missense_Mutation	SNP	G	G	T	rs149712870	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:41711064G>T	ENST00000373025.3	-	4	454	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	PGC_ENST00000425343.2_Missense_Mutation_p.S131Y	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	131					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ATACTGCAGGGAGAAGGTCTG	0.622000													92	136					9.86815e-39	1.88528e-38	0.003610	1	0
GCC2	9648	broad.mit.edu	37	2	109124082	109124082	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:109124082G>T	ENST00000309863.6	+	23	5765	c.5051G>T	c.(5050-5052)cGa>cTa	p.R1684L	AC012487.2_ENST00000322353.3_RNA	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1684	Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTGGACTTCGATAGGTTGAT	0.318000													49	51					1.22119e-34	2.3301e-34	0.003610	1	0
OR13H1	347468	broad.mit.edu	37	X	130678393	130678393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:130678393G>A	ENST00000338616.3	+	1	444	c.346G>A	c.(346-348)Gct>Act	p.A116T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCTCCTACTGGCTGCCATGGC	0.522000													23	1					0	0	0.002780	0	0
CACNA1S	779	broad.mit.edu	37	1	201038277	201038277	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201038277C>T	ENST00000362061.3	-	19	2764	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	CACNA1S_ENST00000367338.3_Silent_p.E846E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	846					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGACAATCTCCACAGTGA	0.582000													13	27					0	0	0.003163	0	0
SPACA1	81833	broad.mit.edu	37	6	88757777	88757777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:88757777G>A	ENST00000237201.1	+	1	271	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	52						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GGAGGAGACCGAAAACAACGA	0.697000													10	10					0	0	0.001368	0	0
RELN	5649	broad.mit.edu	37	7	103270438	103270438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:103270438C>T	ENST00000424685.2	-	20	2810	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	RELN_ENST00000343529.5_Missense_Mutation_p.G884E|RELN_ENST00000428762.1_Missense_Mutation_p.G884E			P78509	RELN_HUMAN	reelin	884					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	p.G884A(1)		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)		AAGGTAGAATCCCAGAGACTG	0.403000													14	12					0	0	0.004007	0	0
RGPD3	653489	broad.mit.edu	37	2	107032315	107032315	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:107032315C>T	ENST00000409886.3	-	21	5142	c.5055G>A	c.(5053-5055)gaG>gaA	p.E1685E	RGPD3_ENST00000304514.7_Silent_p.E1685E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1685					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTAATTTGCTCCATAAGGA	0.423000													25	39					0	0	0.002836	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172080	81172080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:81172080G>A	ENST00000394685.3	+	5	684	c.265G>A	c.(265-267)Gac>Aac	p.D89N	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N			Q8WUJ3	K1199_HUMAN	KIAA1199	89	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGACCACGACGAGCCGAT	0.517000													12	20					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179616677	179616677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179616677C>T	ENST00000360870.5	-	46	10672	c.10450G>A	c.(10450-10452)Gct>Act	p.A3484T	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3489							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)			CTTTTAGCAGCCATGGATTTG	0.363000													10	18					0	0	0.000978	0	0
SERPING1	710	broad.mit.edu	37	11	57367646	57367646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57367646C>T	ENST00000403558.1	+	2	814	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	SERPING1_ENST00000378323.4_Nonsense_Mutation_p.Q121*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.Q64*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.Q116*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.Q116*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	116					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ttctcctacccagcccacTAC	0.557000													41	61					0	0	0.001951	0	0
FAM117B	150864	broad.mit.edu	37	2	203591024	203591024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:203591024C>T	ENST00000303116.6	+	4	908	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	FAM117B_ENST00000392238.2_Missense_Mutation_p.H300Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	300	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CAGTCGGCATCATCGAGATAA	0.403000													117	160					0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169512080	169512080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:169512080C>A	ENST00000367796.3	-	13	2464	c.2263G>T	c.(2263-2265)Gag>Tag	p.E755*	F5_ENST00000367797.3_Nonsense_Mutation_p.E750*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	750	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATTGAACTCTTCTTCTTCC	0.393000													17	25					6.49762e-13	1.23049e-12	0.006122	1	0
CD163L1	283316	broad.mit.edu	37	12	7531660	7531660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:7531660C>T	ENST00000313599.3	-	9	2342	c.2285G>A	c.(2284-2286)gGg>gAg	p.G762E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G772E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G762E|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	762	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGGCTTCCCCTCCAGTGCA	0.453000													37	11					0	0	0.003755	0	0
KIF21B	23046	broad.mit.edu	37	1	200977899	200977899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200977899C>T	ENST00000332129.2	-	3	761	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KIF21B_ENST00000461742.2_Missense_Mutation_p.E149K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E149K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E149K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	149	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CACAGTACCTCCAGAAACTGG	0.637000													19	54					0	0	0.001523	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139164	126139164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:126139164G>A	ENST00000299308.3	+	9	3153	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D561N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1049						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGACAGCGATGATAACAT	0.498000													37	22					0	0	0.004289	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834922	61834922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:61834922G>A	ENST00000370339.3	-	4	711	c.370C>T	c.(370-372)Cct>Tct	p.P124S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.P74S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	124				FP -> AR (in Ref. 4; BAB62751).						NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGTTTTCAGGGAAAAAATTG	0.547000													32	31					0	0	0.001786	0	0
PDE10A	10846	broad.mit.edu	37	6	165809912	165809912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:165809912G>A	ENST00000366882.1	-	15	1439	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	PDE10A_ENST00000354448.4_Missense_Mutation_p.R429W|PDE10A_ENST00000539869.2_Missense_Mutation_p.R439W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	429					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCGTTACCCGGTAAATGCAC	0.403000													9	58					0	0	0.000978	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67440207	67440207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:67440207G>A	ENST00000348579.2	-	3	489	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	50						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATCTGGAGCGGGTGAGGGGGC	0.652000													5	9					0	0	0.000602	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324368	39324368	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:39324368G>A	ENST00000391356.2	-	1	56	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	19						keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCTCCTGGCCGAGACCTTGAC	0.637000													25	21					0	0	0.006320	0	0
SSPO	23145	broad.mit.edu	37	7	149523643	149523643	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:149523643G>A	ENST00000378016.2	+	0	14557							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCAGCCTGGCTGTGGCTG	0.682000													9	10					0	0	0.004482	0	0
RP11-467N20.5	0	broad.mit.edu	37	15	23412198	23412198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:23412198C>T	ENST00000558241.1	-	2	349	c.259G>A	c.(259-261)Ggc>Agc	p.G87S																	endometrium(1)	1						GGGCTAGTGCCATTATTTATT	0.542000													31	42					0	0	0.001512	0	0
ADCY3	109	broad.mit.edu	37	2	25141758	25141758	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:25141758G>A	ENST00000260600.5	-	1	950	c.99C>T	c.(97-99)ggC>ggT	p.G33G		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	33					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATGGGTCCGGCCCACCCCGC	0.647000													21	26					0	0	0.002780	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967909	48967909	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:48967909C>T	ENST00000391884.1	+	2	1662	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	KCNJ14_ENST00000342291.2_Silent_p.L396L			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	396						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L396V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGAACTTGCTCTGAGCTGCTG	0.542000													49	37					0	0	0.003610	0	0
OR51G2	81282	broad.mit.edu	37	11	4936743	4936743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4936743G>A	ENST00000322013.3	-	1	179	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGATAAAAAGAATTGTGCAG	0.512000													4	3					0	0	0.000248	0	0
BARX2	8538	broad.mit.edu	37	11	129306826	129306826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:129306826C>T	ENST00000281437.4	+	2	464	c.368C>T	c.(367-369)aCg>aTg	p.T123M	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	123										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGTCAGAGACGGAACAGCCC	0.657000													8	2					0	0	0.004482	0	0
MUC15	143662	broad.mit.edu	37	11	26582726	26582726	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:26582726C>T	ENST00000436318.2	-	4	1105	c.972G>A	c.(970-972)ggG>ggA	p.G324G	MUC15_ENST00000529533.1_Silent_p.G324G|MUC15_ENST00000281268.8_Silent_p.G274G|MUC15_ENST00000527569.1_Silent_p.G274G|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.G297G|ANO3_ENST00000531568.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTAGAATTCCCAAAACTCA	0.383000													11	6					0	0	0.001368	0	0
GJA8	2703	broad.mit.edu	37	1	147380919	147380919	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:147380919C>T	ENST00000240986.4	+	2	890	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GJA8_ENST00000369235.1_Silent_p.F279F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	279					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCCACTATTTCCCCTTGACCG	0.527000													26	42					0	0	0.007291	0	0
BEST3	144453	broad.mit.edu	37	12	70049529	70049529	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:70049529G>T	ENST00000330891.5	-	10	1391	c.1165C>A	c.(1165-1167)Cat>Aat	p.H389N	BEST3_ENST00000488961.1_Missense_Mutation_p.H176N|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.H283N	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	389						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCATGGAATGCCGATGGCCA	0.537000													8	13					0.00448238	0.00838371	0.004482	1	0
PELP1	27043	broad.mit.edu	37	17	4575297	4575297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:4575297G>A	ENST00000301396.4	-	16	3646	c.3421C>T	c.(3421-3423)Cca>Tca	p.P1141S	PELP1_ENST00000572293.1_Missense_Mutation_p.P1047S|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000269230.7_Missense_Mutation_p.P907S|PELP1_ENST00000574876.1_Missense_Mutation_p.P997S			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	997					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCGGGTTCTGGCTGCACCTTT	0.652000													8	0					0	0	0.006214	0	0
CMYA5	202333	broad.mit.edu	37	5	79032186	79032186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79032186C>T	ENST00000446378.2	+	2	7629	c.7598C>T	c.(7597-7599)tCt>tTt	p.S2533F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2533						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTGTTGGTTCTGAAAAGGAG	0.388000													3	1					0	0	0.004672	0	0
C9orf131	138724	broad.mit.edu	37	9	35044551	35044551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:35044551G>A	ENST00000312292.5	+	2	1972	c.1925G>A	c.(1924-1926)gGt>gAt	p.G642D	C9orf131_ENST00000354479.5_Missense_Mutation_p.G569D|C9orf131_ENST00000421362.2_Missense_Mutation_p.G594D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	642										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GTGTTCCCAGGTAGGGGCTCC	0.517000													32	38					0	0	0.006230	0	0
OR5F1	338674	broad.mit.edu	37	11	55761282	55761282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:55761282C>T	ENST00000278409.1	-	1	819	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AACACAGAAGCCACTTTGTCC	0.458000													18	36					0	0	0.001216	0	0
MUC16	94025	broad.mit.edu	37	19	9061038	9061038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9061038G>A	ENST00000397910.4	-	3	26611	c.26408C>T	c.(26407-26409)aCc>aTc	p.T8803I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8805	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						TGTGTCCAAGGTAAAGGTACC	0.517000													12	29					0	0	0.000978	0	0
RPS6	6194	broad.mit.edu	37	9	19378419	19378419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:19378419G>A	ENST00000380394.4	-	4	501	c.443C>T	c.(442-444)tCt>tTt	p.S148F	RPS6_ENST00000315377.4_Missense_Mutation_p.S117F|RPS6_ENST00000380384.1_Missense_Mutation_p.S117F	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	148					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		ATCTTCTTTAGAGAGATTGAA	0.428000													39	71					0	0	0.002222	0	0
CYLC1	1538	broad.mit.edu	37	X	83129186	83129186	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:83129186G>A	ENST00000329312.4	+	4	1507	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	490					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTGATTTGGAGTTAAAGA	0.348000													4	1					0	0	0.000248	0	0
DDOST	1650	broad.mit.edu	37	1	20979121	20979121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:20979121G>A	ENST00000375048.3	-	10	1319	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	DDOST_ENST00000415136.2_Missense_Mutation_p.S368F|DDOST_ENST00000602624.2_Missense_Mutation_p.S388F	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	405					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCTGAGTGGAAGAGTACAG	0.532000													37	71					0	0	0.002222	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33849309	33849309	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:33849309C>T	ENST00000361112.4	-	2	968	c.90G>A	c.(88-90)agG>agA	p.R30R				Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	0						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGATGAAATTCCTCAGAAACT	0.383000													6	11					0	0	0.001168	0	0
NEBL	10529	broad.mit.edu	37	10	21101828	21101828	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:21101828G>A	ENST00000377122.4	-	24	2784	c.2388C>T	c.(2386-2388)ggC>ggT	p.G796G	NEBL_ENST00000417816.2_Silent_p.G133G|NEBL_ENST00000377159.4_Silent_p.G99G	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	796					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGGGAGTAAAGCCTCTCCCCT	0.448000													8	4					0	0	0.006214	0	0
KLC4	89953	broad.mit.edu	37	6	43040584	43040584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:43040584C>T	ENST00000394056.2	+	14	2006	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	KLC4_ENST00000479388.1_Missense_Mutation_p.T504M|KLC4_ENST00000453940.2_Missense_Mutation_p.T427M|KLC4_ENST00000394058.1_Missense_Mutation_p.T504M|KLC4_ENST00000259708.3_Missense_Mutation_p.T522M|KLC4_ENST00000347162.5_Missense_Mutation_p.T504M			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	504						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ATCAGCCAGACGAAGGTGGCA	0.532000													27	154					0	0	0.002445	0	0
CPNE4	131034	broad.mit.edu	37	3	131442448	131442448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:131442448G>A	ENST00000512055.1	-	7	2328	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	CPNE4_ENST00000511604.1_Missense_Mutation_p.R68C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R68C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R86C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R86C			Q96A23	CPNE4_HUMAN	copine IV	68	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATGCAGGTGCGAATCACCTCA	0.423000													40	39					0	0	0.002852	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922977	48922977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:48922977C>T	ENST00000263269.3	+	9	2085	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	666						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCTTCTTCGCCGTCATCTTC	0.587000													49	62					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61802497	61802497	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:61802497C>T	ENST00000280772.1	-	43	13277	c.13086G>A	c.(13084-13086)gtG>gtA	p.V4362V	ANK3_ENST00000373827.2_Silent_p.V1846V|ANK3_ENST00000355288.2_Silent_p.V986V|ANK3_ENST00000503366.1_Silent_p.V1853V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4362					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						TCTTCGTTTTCACCTTAAAAC	0.423000													47	7					0	0	0.003610	0	0
TRPV5	56302	broad.mit.edu	37	7	142612183	142612183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142612183C>T	ENST00000265310.1	-	11	1668	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	440					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCGCATCACCATGGTCACCA	0.552000													7	9					0	0	0.001984	0	0
DHX16	8449	broad.mit.edu	37	6	30624244	30624244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:30624244G>A	ENST00000376442.3	-	15	2549	c.2354C>T	c.(2353-2355)cCa>cTa	p.P785L	DHX16_ENST00000376437.5_Missense_Mutation_p.P304L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	785					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGTCTCATATGGTGGAGGGTC	0.557000													17	90					0	0	0.007413	0	0
TTF1	7270	broad.mit.edu	37	9	135273568	135273568	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:135273568G>A	ENST00000334270.2	-	4	1776	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	579					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTAAGTTGGTGATCACAGATT	0.408000													22	33					0	0	0.004656	0	0
XDH	7498	broad.mit.edu	37	2	31591449	31591449	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:31591449C>T	ENST00000379416.3	-	19	2106	c.2058G>A	c.(2056-2058)gtG>gtA	p.V686V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	686					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGTGATTTTCACCCCTTGGG	0.502000													31	33					0	0	0.002096	0	0
KRT36	8689	broad.mit.edu	37	17	39642654	39642654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:39642654C>T	ENST00000393986.2	-	8	1440	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	KRT36_ENST00000328119.6_Missense_Mutation_p.E460K			O76013	KRT36_HUMAN	keratin 36	460	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCACGTGCTCCCTGGAGGAG	0.642000													12	13					0	0	0.002450	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:47535945C>T	ENST00000602212.1	+	5	697	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_ENST00000449844.2_Silent_p.F159F|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	38					0	0	0.002222	0	0
ORC2	4999	broad.mit.edu	37	2	201796123	201796123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:201796123C>T	ENST00000234296.2	-	11	1105	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	286					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGTTTAAGTTCGGCAGAAAAG	0.328000													19	28					0	0	0.001523	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211487	35211487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:35211487G>A	ENST00000274938.7	+	16	2026	c.2026G>A	c.(2026-2028)Gat>Aat	p.D676N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D692N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	676					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCTGGGAGTGATGCCCACGG	0.617000													19	126					0	0	0.001523	0	0
COL12A1	1303	broad.mit.edu	37	6	75853084	75853084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:75853084C>T	ENST00000322507.8	-	26	5020	c.4711G>A	c.(4711-4713)Gat>Aat	p.D1571N	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1571N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D407N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1571N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1571	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTTCAGATCCTGAGGTCTG	0.428000													13	18					0	0	0.001855	0	0
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:155771593G>A	ENST00000435422.3	+	2	582	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483000													99	55					0	0	0.003610	0	0
DSPP	1834	broad.mit.edu	37	4	88533510	88533510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:88533510G>A	ENST00000399271.1	+	4	292	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	DSPP_ENST00000282478.7_Missense_Mutation_p.G58S|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	58					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAAAGAAAGTGGTGTCCTGGT	0.413000													17	2					0	0	0.007413	0	0
EDEM2	55741	broad.mit.edu	37	20	33722742	33722742	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:33722742G>A	ENST00000540582.1	-	10	1099	c.378C>T	c.(376-378)acC>acT	p.T126T	EDEM2_ENST00000374491.2_Silent_p.T130T|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374492.3_Silent_p.T167T			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	167					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGCCAGTGGGGGTCTGAAAGG	0.532000													21	16					0	0	0.003954	0	0
FMN2	56776	broad.mit.edu	37	1	240371372	240371372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:240371372C>T	ENST00000319653.9	+	5	3490	c.3260C>T	c.(3259-3261)cCa>cTa	p.P1087L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCCACCTCCCCCT	0.726000													10	0					0	0	0.002450	0	0
MUC2	4583	broad.mit.edu	37	11	1093576	1093576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:1093576G>A	ENST00000441003.2	+	30	5422	c.5395G>A	c.(5395-5397)Gtg>Atg	p.V1799M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.1755_1755insM|MUC2_ENST00000333592.6_Missense_Mutation_p.V87M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1791						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cacaactacGGTGACCGCAAC	0.582000													4	6					0	0	0.000248	0	0
VCAN	1462	broad.mit.edu	37	5	82833200	82833200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:82833200G>A	ENST00000265077.3	+	8	4943	c.4378G>A	c.(4378-4380)Gaa>Aaa	p.E1460K	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E473K|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1460	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCAAAACGGAATTGTCTAC	0.423000													5	6					0	0	0.000602	0	0
RDH16	8608	broad.mit.edu	37	12	57346775	57346775	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57346775C>T	ENST00000398138.3	-	3	1429		c.e3-1		RDH16_ENST00000360752.4_Splice_Site	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GAGTTCCCTCCTGCAAGACAG	0.428000													25	45					0	0	0.006320	0	0
CCDC176	80127	broad.mit.edu	37	14	74516885	74516885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:74516885G>A	ENST00000394009.3	+	8	1396	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	CCDC176_ENST00000553773.1_Missense_Mutation_p.E150K|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		GGATCTTCTGGAGGCCGAAAA	0.358000													35	54					0	0	0.005524	0	0
CTDP1	9150	broad.mit.edu	37	18	77477868	77477868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:77477868C>T	ENST00000299543.7	+	10	2416	c.2269C>T	c.(2269-2271)Cac>Tac	p.H757Y	CTDP1_ENST00000075430.7_Missense_Mutation_p.H757Y	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	757					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCTTGTTCCACCCGATGCC	0.701000													29	27					0	0	0.002096	0	0
KIF5A	3798	broad.mit.edu	37	12	57957968	57957968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57957968G>A	ENST00000455537.2	+	4	643	c.369G>A	c.(367-369)atG>atA	p.M123I	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	123	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCTACTCCATGGATGAGAACC	0.512000													22	36					0	0	0.002780	0	0
COL13A1	1305	broad.mit.edu	37	10	71640273	71640273	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:71640273C>T	ENST00000356340.3	+	5	986	c.450C>T	c.(448-450)gaC>gaT	p.D150D	COL13A1_ENST00000398974.3_Silent_p.D138D|COL13A1_ENST00000357811.3_Silent_p.D150D|COL13A1_ENST00000398966.3_Silent_p.D150D|COL13A1_ENST00000398968.3_Silent_p.D150D|COL13A1_ENST00000522165.1_Silent_p.D150D|COL13A1_ENST00000398971.3_Silent_p.D150D|COL13A1_ENST00000517713.1_Silent_p.D150D|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000354547.3_Silent_p.D150D|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398972.3_Silent_p.D150D|COL13A1_ENST00000398973.3_Silent_p.D150D|COL13A1_ENST00000398978.3_Silent_p.D150D			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	150	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCCCCGGAGACGCTGGGCTGT	0.612000													18	0					0	0	0.002299	0	0
FBN2	2201	broad.mit.edu	37	5	127800494	127800494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:127800494G>A	ENST00000508053.1	-	12	1723	c.749C>T	c.(748-750)cCc>cTc	p.P250L	FBN2_ENST00000508989.1_Missense_Mutation_p.P217L|FBN2_ENST00000262464.4_Missense_Mutation_p.P250L			P35556	FBN2_HUMAN	fibrillin 2	250	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCACAGGGATGGCCCCA	0.602000													14	38					0	0	0.003163	0	0
KLHL22	84861	broad.mit.edu	37	22	20819167	20819167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:20819167G>A	ENST00000328879.4	-	4	1246	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	KLHL22_ENST00000440659.2_Nonsense_Mutation_p.R221*	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTCTGCTCGAAATCCTTGG	0.567000													57	9					0	0	0.003610	0	0
AGAP2	116986	broad.mit.edu	37	12	58126232	58126232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:58126232G>A	ENST00000257897.3	-	7	825	c.740C>T	c.(739-741)cCc>cTc	p.P247L	AGAP2_ENST00000547588.1_Missense_Mutation_p.P583L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	583					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGGGGAGCTGGGCAGGGACTT	0.627000													3	5					0	0	0.000248	0	0
LRRC55	219527	broad.mit.edu	37	11	56950114	56950114	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:56950114C>T	ENST00000497933.1	+	1	894	c.747C>T	c.(745-747)ccC>ccT	p.P249P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	219	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCATGGAACCCCTGCTGAAGT	0.627000													37	52					0	0	0.007835	0	0
GSDMA	284110	broad.mit.edu	37	17	38127789	38127789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:38127789C>T	ENST00000301659.4	+	5	689	c.571C>T	c.(571-573)Cac>Tac	p.H191Y		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	191					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATCCATAAATCACAAGGAGGC	0.507000													14	31					0	0	0.002450	0	0
PPIL4	85313	broad.mit.edu	37	6	149855870	149855870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:149855870G>A	ENST00000253329.2	-	6	537	c.505C>T	c.(505-507)Cct>Tct	p.P169S		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	169					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AAATCAGGAGGGTCATCAAAT	0.303000													57	99					0	0	0.003610	0	0
STK36	27148	broad.mit.edu	37	2	219553520	219553520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:219553520C>T	ENST00000295709.3	+	12	1760	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	STK36_ENST00000392106.2_Missense_Mutation_p.S494F|STK36_ENST00000440309.1_Missense_Mutation_p.S494F|STK36_ENST00000392105.3_Missense_Mutation_p.S494F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	494					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTTGTATTCCTTCTGCCGG	0.582000													19	38					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92526050	92526050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:92526050G>A	ENST00000298047.6	+	8	4746	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	FAT3_ENST00000409404.2_Missense_Mutation_p.E1577K|FAT3_ENST00000525166.1_Missense_Mutation_p.E1427K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1577	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCTGTGTTTGAATCTGCTGC	0.448000										TCGA Ovarian(4;0.039)			56	119					0	0	0.003610	0	0
HAS1	3036	broad.mit.edu	37	19	52222609	52222609	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52222609C>T	ENST00000540069.2	-	2	609	c.549G>A	c.(547-549)cgG>cgA	p.R183R	HAS1_ENST00000594621.1_Silent_p.R38R|HAS1_ENST00000222115.1_Silent_p.R184R|HAS1_ENST00000601714.1_Silent_p.R191R			Q92839	HAS1_HUMAN	hyaluronan synthase 1	184					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)		CCTCCACCTCCCGATAGGCTc	0.736000													7	6					0	0	0.001984	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757116	56757116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:56757116C>T	ENST00000326855.2	+	1	770	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACATGTGCTTCCCACCTGACC	0.418000													11	17					0	0	0.000978	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270611	1270611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:1270611C>T	ENST00000348261.5	+	35	6927	c.6679C>T	c.(6679-6681)Cct>Tct	p.P2227S	CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2221S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2221S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2227					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGAGGCCACGCCTCACAGGGA	0.751000													5	7					0	0	0.000602	0	0
OTC	5009	broad.mit.edu	37	X	38240680	38240680	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:38240680C>T	ENST00000039007.4	+	4	536	c.384C>T	c.(382-384)gcC>gcT	p.A128A	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CGGACACGGCCCGGTTTGTAA	0.348000													20	1					0	0	0.007413	0	0
GIT1	28964	broad.mit.edu	37	17	27903414	27903414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:27903414G>A	ENST00000225394.3	-	14	1683	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	GIT1_ENST00000394869.3_Missense_Mutation_p.P488S|GIT1_ENST00000581348.1_Missense_Mutation_p.P488S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.P479S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	479					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGAGGTGTGGGCACCGGCCCT	0.652000													44	64					0	0	0.003610	0	0
ACTN1	87	broad.mit.edu	37	14	69346820	69346820	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:69346820G>A	ENST00000193403.6	-	18	2522	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	ACTN1_ENST00000438964.2_Silent_p.I713I|ACTN1_ENST00000376839.3_Silent_p.I648I|ACTN1_ENST00000394419.4_Silent_p.I713I|ACTN1_ENST00000538545.2_Silent_p.I713I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	713	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCCCACACGGATGTGCTGCA	0.637000													23	44					0	0	0.003954	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127419	45127419	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:45127419C>T	ENST00000575173.1	-	0	418																											GCAAACAGGCCTCCGTTCTCT	0.468000													8	58					0	0	0.001368	0	0
SIN3A	25942	broad.mit.edu	37	15	75687134	75687134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:75687134C>T	ENST00000394947.3	-	14	2478	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E722K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E722K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	722	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAGTATTTCTCATTTTGTTCT	0.438000													34	43					0	0	0.004289	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10395837C>T	ENST00000226207.5	-	40	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1906						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000													45	51					0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167160752	167160752	+	Silent	SNP	G	G	A	rs71428908		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:167160752G>A	ENST00000303354.6	-	6	1027	c.687C>T	c.(685-687)atC>atT	p.I229I	SCN9A_ENST00000409435.1_Silent_p.I228I|SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000409672.1_Silent_p.I228I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	228						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTACCTGGGATTACAGAAA	0.373000													16	17					0	0	0.001523	0	0
CCRL2	9034	broad.mit.edu	37	3	46449597	46449597	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:46449597G>A	ENST00000399036.3	+	2	379	c.27G>A	c.(25-27)gaG>gaA	p.E9E	ACKR5_ENST00000357392.4_Silent_p.E21E|ACKR5_ENST00000400882.2_Silent_p.E9E|ACKR5_ENST00000400880.3_Silent_p.E9E	NM_003965.4	NP_003956.2																					TGGCACCAGAGGATGAATATG	0.522000													7	6					0	0	0.003080	0	0
PAX8	7849	broad.mit.edu	37	2	113993093	113993093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:113993093G>A	ENST00000429538.3	-	9	1159	c.965C>T	c.(964-966)tCc>tTc	p.S322F	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263335.7_Intron	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	322	Ser-rich.			S -> C (in Ref. 1; X69699).	branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGATAAAGAGGAAGGGGTGGA	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						13	20					0	0	0.004007	0	0
EPB42	2038	broad.mit.edu	37	15	43489561	43489561	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:43489561A>T	ENST00000300215.3	-	13	2562	c.2105T>A	c.(2104-2106)aTg>aAg	p.M702K	EPB42_ENST00000540029.1_Missense_Mutation_p.M594K|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.M672K			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	672					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTTCTGGAACATGTTGCAGTC	0.502000													17	17					0	0	0.006122	0	0
GFRA3	2676	broad.mit.edu	37	5	137589837	137589837	+	Silent	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:137589837C>A	ENST00000274721.3	-	5	1044	c.798G>T	c.(796-798)gtG>gtT	p.V266V	GFRA3_ENST00000378362.3_Silent_p.V235V	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	266					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTGGAAATCCACCAGGCGTG	0.488000													13	31					9.16793e-09	1.72112e-08	0.004990	1	0
LOC93432	93432	broad.mit.edu	37	7	141833863	141833863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141833863G>A	ENST00000477922.3	+	7	712	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.G220R																endometrium(1)|lung(5)	6						CAATGTGTATGGGCTGGGAGA	0.602000													3	0					0	0	0.000248	0	0
ABCA6	23460	broad.mit.edu	37	17	67083503	67083503	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:67083503G>A	ENST00000284425.2	-	29	3984	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1270					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCTCATCTAAGATTGAAGTGG	0.373000													33	76					0	0	0.002836	0	0
SDK2	54549	broad.mit.edu	37	17	71364685	71364685	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:71364685C>T	ENST00000392650.3	-	37	5028	c.5028G>A	c.(5026-5028)aaG>aaA	p.K1676K	SDK2_ENST00000388726.3_Silent_p.K1657K|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1676	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGAAAAGCGTCTTCACTCGCT	0.587000													20	13					0	0	0.001216	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143533	143533	+	Missense_Mutation	SNP	C	C	T	rs149661863		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:143533C>T	ENST00000283426.6	+	3	708	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	220			R -> H (in dbSNP:rs13436090).		regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGTGCAGGTCCGCACCAGGAG	0.642000													22	23					0	0	0.002299	0	0
CFH	3075	broad.mit.edu	37	1	196714956	196714956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:196714956G>A	ENST00000367429.4	+	21	3560	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				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						GATTCTACAGGAAAATGTGGG	0.398000													54	83					0	0	0.003610	0	0
PSD	5662	broad.mit.edu	37	10	104175863	104175863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:104175863G>A	ENST00000020673.5	-	3	1194	c.668C>T	c.(667-669)tCc>tTc	p.S223F	PSD_ENST00000406432.1_Missense_Mutation_p.S223F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	223					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGGGGGGAGGACCAGGTATC	0.532000													12	0					0	0	0.002450	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168577	50168577	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:50168577C>T	ENST00000284509.6	-	25	3066	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	ATP8B4_ENST00000559829.1_Silent_p.G975G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	975					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTAAAAGGCCCCATAGGGGA	0.448000													8	2					0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10335516	10335516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:10335516C>T	ENST00000377086.1	+	11	1115	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	KIF1B_ENST00000377081.1_Missense_Mutation_p.P305S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P299S|KIF1B_ENST00000377093.4_Missense_Mutation_p.P299S|KIF1B_ENST00000377083.1_Missense_Mutation_p.P299S			O60333	KIF1B_HUMAN	kinesin family member 1B	305	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATTTTATTCCCTACAGGGA	0.318000													38	73					0	0	0.007835	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906748	13906748	+	Silent	SNP	G	G	A	rs3026183		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:13906748G>A	ENST00000279593.3	-	3	722	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	171					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGTGGTGACGATAGAAAAGA	0.463000													16	4					0	0	0.006122	0	0
MROH7	374977	broad.mit.edu	37	1	55119671	55119671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55119671G>A	ENST00000414150.2	+	3	1350	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	MROH7_ENST00000339553.5_Missense_Mutation_p.D358N|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.D358N|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.D358N|MROH7_ENST00000472987.1_3'UTR					maestro heat-like repeat family member 7																		CAGTCAGCAGGATGATGCCAA	0.567000													11	27					0	0	0.000673	0	0
MSLNL	401827	broad.mit.edu	37	16	830189	830189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:830189C>T	ENST00000293892.3	-	3	811	c.812G>A	c.(811-813)gGg>gAg	p.G271E	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	516					cell adhesion	integral to membrane		p.G271E(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGAGGGTCCCGGCGGGAGC	0.672000													13	18					0	0	0.002450	0	0
TRPM6	140803	broad.mit.edu	37	9	77377279	77377279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77377279C>T	ENST00000451710.3	-	26	4545	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	TRPM6_ENST00000360774.1_Missense_Mutation_p.M1436I|TRPM6_ENST00000449912.2_Missense_Mutation_p.M1431I|TRPM6_ENST00000361255.3_Missense_Mutation_p.M1431I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.M1436I|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1436					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGGAGCTCATTGTCATGG	0.473000													21	14					0	0	0.002780	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554463	20554463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:20554463G>A	ENST00000329697.6	-	11	1571	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ACSM2B_ENST00000565232.1_Missense_Mutation_p.S468F|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S468F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S389F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	468					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACCCGCTGGAGTTAATGAT	0.512000													32	99					0	0	0.003271	0	0
OR52N4	390072	broad.mit.edu	37	11	5776254	5776254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:5776254G>A	ENST00000317254.3	+	1	332	c.284G>A	c.(283-285)gGa>gAa	p.G95E	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAGGACATTGGATTTGATGAA	0.473000													5	2					0	0	0.000602	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:140995048G>A	ENST00000285879.4	+	4	2144	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)			102	18					0	0	0.003610	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004713	52004713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52004713C>T	ENST00000291707.3	-	1	330	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	92	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGTGGAATCGGTCCCGAGT	0.552000													68	85					0	0	0.003610	0	0
MOV10	4343	broad.mit.edu	37	1	113240676	113240676	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:113240676C>T	ENST00000369644.1	+	16	3120	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A	MOV10_ENST00000413052.2_Silent_p.A753A|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Silent_p.A753A|MOV10_ENST00000369645.1_Silent_p.A753A			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	753					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGCTGCAGGCCTGTGCTGATG	0.607000													48	72					0	0	0.003610	0	0
PRR21	643905	broad.mit.edu	37	2	240981437	240981437	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240981437G>A	ENST00000408934.1	-	1	962	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	321										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGCATGGACGAAGGGCCGTG	0.597000													73	95					0	0	0.003610	0	0
COBL	23242	broad.mit.edu	37	7	51092937	51092937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:51092937G>A	ENST00000395542.2	-	14	4067	c.3883C>T	c.(3883-3885)Ccc>Tcc	p.P1295S	COBL_ENST00000265136.7_Missense_Mutation_p.P1213S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1213										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCTGGGAGGGTGGAGGGGGT	0.632000													23	6					0	0	0.001882	0	0
RXFP2	122042	broad.mit.edu	37	13	32340124	32340124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:32340124C>T	ENST00000298386.2	+	5	528	c.457C>T	c.(457-459)Cca>Tca	p.P153S	RXFP2_ENST00000380314.1_Missense_Mutation_p.P153S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	153						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ccacagtcttccAGATAAAGT	0.328000													6	4					0	0	0.001168	0	0
SVEP1	79987	broad.mit.edu	37	9	113170146	113170146	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:113170146G>A	ENST00000401783.2	-	38	8070	c.7734C>T	c.(7732-7734)atC>atT	p.I2578I	SVEP1_ENST00000374469.1_Silent_p.I2555I|SVEP1_ENST00000297826.5_Silent_p.I504I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2578	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGTAGATGATTATGGCAC	0.473000													20	23					0	0	0.001882	0	0
ANK3	288	broad.mit.edu	37	10	62021631	62021631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:62021631C>T	ENST00000280772.1	-	7	975	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANK3_ENST00000373827.2_Missense_Mutation_p.D256N|ANK3_ENST00000503366.1_Missense_Mutation_p.D245N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	262					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						GCGGTGAAATCCACAGCAGCC	0.433000													18	2					0	0	0.002299	0	0
NPAP1	23742	broad.mit.edu	37	15	24921709	24921709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:24921709C>T	ENST00000329468.2	+	1	1169	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCAGCGAGCTCCTGCTTGGAA	0.612000													21	31					0	0	0.001882	0	0
UPF1	5976	broad.mit.edu	37	19	18971135	18971135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:18971135C>T	ENST00000262803.5	+	16	2460	c.2188C>T	c.(2188-2190)Cgt>Tgt	p.R730C	UPF1_ENST00000599848.1_Missense_Mutation_p.R741C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	741					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CACAGCGGATCGTGTGAAGAA	0.537000													164	88					0	0	0.003610	0	0
ASAP3	55616	broad.mit.edu	37	1	23767937	23767937	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:23767937C>T	ENST00000336689.3	-	9	821	c.777G>A	c.(775-777)caG>caA	p.Q259Q	ASAP3_ENST00000437606.2_Silent_p.Q250Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	259					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGGTCAGCTTCTGTAGCTCGT	0.587000													12	25					0	0	0.002450	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629177	20629177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:20629177G>A	ENST00000525748.1	+	5	1237	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	322					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGAATGCAAAGATAAAACCAA	0.358000													58	49					0	0	0.003610	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838881	34838881	+	Missense_Mutation	SNP	G	G	A	rs146017138		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:34838881G>A	ENST00000299505.6	+	11	3494	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	874										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCAACCCCCGGGGCAACTGG	0.642000													27	26					0	0	0.007291	0	0
SPOCK2	9806	broad.mit.edu	37	10	73826742	73826742	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:73826742G>A	ENST00000373109.2	-	8	1290	c.846C>T	c.(844-846)atC>atT	p.I282I	SPOCK2_ENST00000317376.4_Silent_p.I282I|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Silent_p.I282I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	282					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGGGACGGATGCAGACCT	0.587000													76	10					0	0	0.003610	0	0
ZNF665	79788	broad.mit.edu	37	19	53678737	53678737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:53678737C>T	ENST00000396424.3	-	3	192	c.103G>A	c.(103-105)Gac>Aac	p.D35N	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AACATGACGTCCCTGTACAAA	0.448000													53	58					0	0	0.003610	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:34663234C>T	ENST00000488417.1	+	2	849	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_ENST00000373374.3_Silent_p.F53F	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000													7	16					0	0	0.003080	0	0
HGD	3081	broad.mit.edu	37	3	120352102	120352102	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:120352102C>T	ENST00000283871.5	-	13	1539	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	360					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACTCCCTCCCCCTGGCAGGA	0.537000													18	21					0	0	0.007413	0	0
CPA3	1359	broad.mit.edu	37	3	148614490	148614490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:148614490C>T	ENST00000296046.3	+	11	1302	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	417					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGCATACTTCCTAAAGAACT	0.393000													21	43					0	0	0.001882	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100801778	100801778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:100801778C>T	ENST00000268070.4	-	6	1042	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	313	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATACTCCTCGTTCTGCCAG	0.557000													11	11					0	0	0.000978	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:111353546C>T	ENST00000228841.8	-	3	189	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000													67	96					0	0	0.003610	0	0
OR2L8	391190	broad.mit.edu	37	1	248112615	248112615	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248112615G>A	ENST00000357191.3	+	1	456	c.456G>A	c.(454-456)tcG>tcA	p.S152S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCATAGGCTCGATCAATGCTT	0.443000													31	84					0	0	0.003271	0	0
ZNF99	7652	broad.mit.edu	37	19	22941345	22941345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:22941345C>T	ENST00000397104.3	-	5	1092	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E456K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGCATTCTTCACATTTGTAG	0.373000													7	15					0	0	0.001984	0	0
LILRA1	11024	broad.mit.edu	37	19	55106754	55106754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:55106754C>T	ENST00000453777.1	+	5	718	c.548C>T	c.(547-549)tCt>tTt	p.S183F	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S183F	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCTGTGGGCCCC	0.567000													53	60					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26705348	26705348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:26705348G>A	ENST00000272371.2	-	14	1631	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	OTOF_ENST00000403946.3_Missense_Mutation_p.S502L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	502	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTGTCCGAGTCTCGGAT	0.562000													41	52					0	0	0.003214	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438424	38438424	+	Silent	SNP	C	C	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:38438424C>G	ENST00000322350.5	+	17	2677	c.2331C>G	c.(2329-2331)tcC>tcG	p.S777S	EGFLAM_ENST00000336740.6_Silent_p.S543S|EGFLAM_ENST00000397202.2_Silent_p.S143S|EGFLAM_ENST00000354891.3_Silent_p.S777S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	777	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTCACCTCCGGAGTGAATG	0.512000													11	26					0	0	0.002450	0	0
NLRP1	22861	broad.mit.edu	37	17	5462329	5462329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:5462329G>A	ENST00000345221.3	-	4	2241	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	NLRP1_ENST00000572272.1_Missense_Mutation_p.P563S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P563S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P563S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P563S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P563S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	563	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTCCCAATGGCTGAGCTTGG	0.532000													52	11					0	0	0.003610	0	0
TSPAN2	10100	broad.mit.edu	37	1	115604780	115604780	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115604780C>T	ENST00000369516.2	-	3	277	c.246G>A	c.(244-246)cgG>cgA	p.R82R	TSPAN2_ENST00000369515.2_Silent_p.R82R|TSPAN2_ENST00000369514.2_Silent_p.R82R	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	82				AMR -> PCW (in Ref. 1; AAC69715).		integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ATTGCGACTCCCGCATGGCTC	0.627000													6	5					0	0	0.001984	0	0
OTUD7B	56957	broad.mit.edu	37	1	149939342	149939342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:149939342G>A	ENST00000369135.3	-	4	673	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	127					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ATTTCCAGGGGGTGCTCATTG	0.567000													11	20					0	0	0.000673	0	0
BSN	8927	broad.mit.edu	37	3	49689785	49689785	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:49689785G>A	ENST00000296452.4	+	5	2910	c.2796G>A	c.(2794-2796)aaG>aaA	p.K932K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	932					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)		GTCGCTTCAAGACCATTGAGC	0.617000													39	30					0	0	0.006230	0	0
FER1L6	654463	broad.mit.edu	37	8	124989743	124989743	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:124989743G>A	ENST00000522917.1	+	10	1163	c.957G>A	c.(955-957)cgG>cgA	p.R319R	FER1L6_ENST00000399018.1_Silent_p.R319R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	319	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTTGTGTCGGAGGGTGAAAA	0.502000													4	9					0	0	0.000248	0	0
NRG1	3084	broad.mit.edu	37	8	32505765	32505765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:32505765C>T	ENST00000520502.2	+	1	529	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	434	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACCGAAGAATCGTATTTTTGC	0.522000													31	67					0	0	0.002836	0	0
SYTL2	54843	broad.mit.edu	37	11	85435742	85435742	+	Silent	SNP	C	C	T	rs146372321	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:85435742C>T	ENST00000359152.5	-	1	3329	c.3330G>A	c.(3328-3330)aaG>aaA	p.K1110K	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Silent_p.K586K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.K586K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	501					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGCCTCGGCCTTTTCTACTG	0.443000													19	36					0	0	0.001216	0	0
SERPIND1	3053	broad.mit.edu	37	22	21138412	21138412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:21138412G>A	ENST00000215727.5	+	3	1325	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E348K|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	348					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTCCAGCTGGAATACGTGGG	0.547000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	12					0	0	0.001512	0	0
FCER2	2208	broad.mit.edu	37	19	7755382	7755382	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:7755382G>A	ENST00000346664.5	-	9	743	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FCER2_ENST00000597921.1_Silent_p.F177F|FCER2_ENST00000360067.4_Silent_p.F176F	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	177	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGCCCTTGCCGAAGTAGTAGC	0.612000													22	62					0	0	0.002299	0	0
RAVER2	55225	broad.mit.edu	37	1	65247190	65247190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:65247190C>T	ENST00000294428.3	+	4	992	c.914C>T	c.(913-915)tCc>tTc	p.S305F	RAVER2_ENST00000430964.2_Missense_Mutation_p.S11F|RAVER2_ENST00000371072.4_Missense_Mutation_p.S305F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	305	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTCCAGGTTTCCTTCTGTGCT	0.507000													33	30					0	0	0.003271	0	0
ADAM2	2515	broad.mit.edu	37	8	39645760	39645760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:39645760G>A	ENST00000265708.4	-	9	756	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ADAM2_ENST00000521880.1_Missense_Mutation_p.S218L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S199L|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	218	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATATTAAATGAAACAAAAAT	0.239000													13	14					0	0	0.003163	0	0
OR2T8	343172	broad.mit.edu	37	1	248084496	248084496	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248084496C>T	ENST00000319968.4	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATGTACTTCCTCCTGAGCC	0.537000													46	110					0	0	0.003610	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517206	26517206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:26517206G>A	ENST00000456354.2	+	1	155	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	30					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCGTATGGGGTTTGGAGG	0.602000													50	22					0	0	0.003610	0	0
TIMM50	92609	broad.mit.edu	37	19	39971436	39971436	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:39971436C>T	ENST00000314349.4	+	1	385	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	58					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGTAGCTCCGGCCCGGGGC	0.711000													6	10					0	0	0.001168	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855265	22855265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22855265G>A	ENST00000283645.4	+	13	1856	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E576K|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	576					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTGTGCGGAGAGCACCAC	0.562000													10	12					0	0	0.006214	0	0
XKR4	114786	broad.mit.edu	37	8	56436121	56436121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:56436121G>A	ENST00000327381.5	+	3	1388	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	430						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAAATGGGAAGAGATTGTGTT	0.443000													43	111					0	0	0.002522	0	0
MAPK13	5603	broad.mit.edu	37	6	36103816	36103816	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36103816C>T	ENST00000211287.4	+	5	700	c.438C>T	c.(436-438)gtC>gtT	p.V146V	MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.V146V|MAPK13_ENST00000373761.6_Intron|MAPK13_ENST00000373759.1_Silent_p.V68V	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	146	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGCTGGGGTCGTGCACAGGG	0.582000													39	143					0	0	0.002222	0	0
RPAP1	26015	broad.mit.edu	37	15	41829309	41829309	+	Silent	SNP	C	C	T	rs150252012		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:41829309C>T	ENST00000304330.4	-	2	131	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RPAP1_ENST00000561603.1_Silent_p.P5P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	5						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCCTGGCTTCGGTCTCGACA	0.577000													5	14					0	0	0.000602	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231820	142231820	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142231820C>T	ENST00000390364.3	-	0	164																											CTTCCTGTCTCTGTGATCTTG	0.507000													18	20					0	0	0.006122	0	0
COL15A1	1306	broad.mit.edu	37	9	101797334	101797334	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:101797334G>A	ENST00000375001.3	+	18	2541	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617000													8	13					0	0	0.000673	0	0
PI4K2B	55300	broad.mit.edu	37	4	25270159	25270159	+	Silent	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:25270159T>C	ENST00000264864.6	+	8	1362	c.1173T>C	c.(1171-1173)ttT>ttC	p.F391F	PI4K2B_ENST00000512921.1_Silent_p.F295F	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	391	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ACATGAACTTTGTGCAAGATT	0.313000													19	2					0	0	0.001216	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938965	2938965	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:2938965C>T	ENST00000378404.2	+	1	920	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	239						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAGGAGGTCCTGAGGGAGTA	0.652000													21	49					0	0	0.002780	0	0
ZNF254	9534	broad.mit.edu	37	19	24310604	24310604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:24310604C>T	ENST00000357002.4	+	4	1917	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	ZNF254_ENST00000342944.6_Missense_Mutation_p.P516L	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	601					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGAGTAAAACCCTACAAATGT	0.363000													5	6					0	0	0.000602	0	0
BEST3	144453	broad.mit.edu	37	12	70049528	70049528	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:70049528T>A	ENST00000330891.5	-	10	1392	c.1166A>T	c.(1165-1167)cAt>cTt	p.H389L	BEST3_ENST00000488961.1_Missense_Mutation_p.H176L|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.H283L	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	389						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATCATGGAATGCCGATGGCC	0.537000													8	14					0	0	0.004482	0	0
NUP210	23225	broad.mit.edu	37	3	13370432	13370432	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:13370432G>A	ENST00000254508.5	-	31	4207	c.4125C>T	c.(4123-4125)tcC>tcT	p.S1375S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1375					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCTCAGGTAGGAAACAGGGG	0.572000													20	29					0	0	0.002299	0	0
GNAZ	2781	broad.mit.edu	37	22	23465355	23465355	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:23465355C>T	ENST00000248996.4	+	3	1471	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	269						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CATCCTCTTCCTGAACAAGAA	0.547000													34	5					0	0	0.007835	0	0
TACC2	10579	broad.mit.edu	37	10	123843207	123843207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:123843207G>A	ENST00000369005.1	+	4	1532	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	TACC2_ENST00000515273.1_Missense_Mutation_p.E398K|TACC2_ENST00000515603.1_Missense_Mutation_p.E398K|TACC2_ENST00000334433.3_Missense_Mutation_p.E398K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E398K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	398						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)				CGGCCAGCCCGAAGGGGGTTT	0.587000													47	9					0	0	0.003610	0	0
MARCH1	55016	broad.mit.edu	37	4	164466772	164466772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164466772C>T	ENST00000503008.1	-	7	1523	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MARCH1_ENST00000274056.7_Missense_Mutation_p.E183K|MARCH1_ENST00000514618.1_Missense_Mutation_p.E439K|MARCH1_ENST00000339875.5_Missense_Mutation_p.E166K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	183					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCTTGATTTCCTCCGCTGTC	0.433000													17	4					0	0	0.001523	0	0
SDAD1	55153	broad.mit.edu	37	4	76879000	76879000	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:76879000G>A	ENST00000356260.5	-	18	1696	c.1578_splice	c.e18+1	p.I526_splice	SDAD1_ENST00000395711.4_Splice_Site_p.I489_splice	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	526					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGACTTACGATTTCTTGCT	0.423000													113	8					0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972299	43972299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:43972299C>T	ENST00000262726.7	-	26	3551	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D948N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1100	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAACAGAAATCCTTAAGAACT	0.318000													49	16					0	0	0.003610	0	0
PRKCB	5579	broad.mit.edu	37	16	24196829	24196829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:24196829G>A	ENST00000303531.7	+	15	1815	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PRKCB_ENST00000321728.7_Missense_Mutation_p.E555K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	555	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATCCATCATGGAACACAACGT	0.517000													8	21					0	0	0.001368	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140742023	140742023	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140742023T>C	ENST00000522605.1	+	1	2321	c.2321T>C	c.(2320-2322)tTg>tCg	p.L774S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCGGAATTGGTTCCCGCG	0.468000													46	121					0	0	0.003610	0	0
OR6B2	389090	broad.mit.edu	37	2	240969686	240969686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240969686G>A	ENST00000402971.2	-	1	220	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTGTGGAGGGAGGTGCTGCT	0.567000													32	139					0	0	0.006230	0	0
UBE2O	63893	broad.mit.edu	37	17	74395073	74395073	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:74395073C>T	ENST00000319380.7	-	10	1693		c.e10-1		UBE2O_ENST00000587581.1_Splice_Site	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O								ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CACTGCCACCCTGCGGGTGCA	0.622000													22	31					0	0	0.002299	0	0
ME3	10873	broad.mit.edu	37	11	86158109	86158109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:86158109C>T	ENST00000543262.1	-	12	1704	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.E460K|ME3_ENST00000393324.3_Missense_Mutation_p.E460K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	460					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	p.E460K(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCGCTGACCTCGGTGACCCGG	0.562000													9	20					0	0	0.000978	0	0
SIM1	6492	broad.mit.edu	37	6	100841650	100841650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100841650G>A	ENST00000369208.3	-	11	2065	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	SIM1_ENST00000262901.4_Missense_Mutation_p.S428F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	428	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCGTGCTGGGAGCCAGGCCT	0.602000													26	37					0	0	0.006320	0	0
COL4A1	1282	broad.mit.edu	37	13	110859775	110859775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:110859775C>T	ENST00000375820.4	-	13	876	c.755G>A	c.(754-756)gGa>gAa	p.G252E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G252E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	252	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCGAAGTCTCCTTTTTCTTG	0.408000													64	115					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228509213	228509213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228509213G>A	ENST00000570156.2	+	66	17616	c.17542G>A	c.(17542-17544)Gag>Aag	p.E5848K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E4891K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2010K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2525K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4891K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4891	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGAAGGAGATGAAGCA	0.592000													9	9					0	0	0.004482	0	0
AGAP11	119385	broad.mit.edu	37	10	88759265	88759265	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:88759265C>T	ENST00000444431.1	+	0	395				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACCAAGAAATCCACAATCTGG	0.358000													29	2					0	0	0.001512	0	0
CNTN5	53942	broad.mit.edu	37	11	100095439	100095439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:100095439G>A	ENST00000524871.1	+	16	2190	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	CNTN5_ENST00000279463.3_Missense_Mutation_p.D634N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D634N|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000418526.2_Missense_Mutation_p.D560N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D634N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	634	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCCTCTGCAGATTTAATGAT	0.458000													20	5					0	0	0.002299	0	0
GPR133	283383	broad.mit.edu	37	12	131620641	131620641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:131620641G>A	ENST00000261654.5	+	22	2886	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	GPR133_ENST00000535015.1_Missense_Mutation_p.G808D|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.G462D|GPR133_ENST00000543617.1_Missense_Mutation_p.G295D	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGTCTTTGGCGTGCTTGCT	0.617000													17	21					0	0	0.002299	0	0
FOSL2	2355	broad.mit.edu	37	2	28635174	28635174	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:28635174C>T	ENST00000264716.4	+	4	1703	c.840C>T	c.(838-840)ctC>ctT	p.L280L	FOSL2_ENST00000545753.1_Silent_p.L241L|FOSL2_ENST00000379619.1_Silent_p.L272L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	280					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTCGAACCTCGTCTTCACCT	0.622000													14	18					0	0	0.004990	0	0
DEFA4	1669	broad.mit.edu	37	8	6794277	6794277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:6794277C>T	ENST00000297435.2	-	2	269	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	49					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGCTTTTATCCCATGCAAAG	0.547000													18	57					0	0	0.001523	0	0
PIGO	84720	broad.mit.edu	37	9	35094005	35094005	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:35094005C>G	ENST00000378617.3	-	4	1066	c.672G>C	c.(670-672)tgG>tgC	p.W224C	PIGO_ENST00000298004.5_Missense_Mutation_p.W224C|PIGO_ENST00000361778.2_Missense_Mutation_p.W224C|PIGO_ENST00000341666.3_Missense_Mutation_p.W224C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	224					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAGCACGTCCCATTCACCAC	0.557000													7	23					0	0	0.003080	0	0
NLRP5	126206	broad.mit.edu	37	19	56539737	56539737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56539737C>T	ENST00000390649.3	+	7	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	713						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493000													83	130					0	0	0.003610	0	0
BEND6	221336	broad.mit.edu	37	6	56882095	56882095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:56882095G>A	ENST00000370746.3	+	5	879	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	BEND6_ENST00000545789.1_Missense_Mutation_p.E106K|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	204	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTACACAAATGAATACATGGC	0.383000													9	34					0	0	0.006214	0	0
CYFIP2	26999	broad.mit.edu	37	5	156731368	156731368	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:156731368C>T	ENST00000347377.6	+	8	1220	c.789C>T	c.(787-789)ctC>ctT	p.L263L	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.L188L|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Silent_p.L263L|CYFIP2_ENST00000521420.1_Silent_p.L237L|CYFIP2_ENST00000377576.3_Silent_p.L263L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	263					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACATATGCTCCTCAAGGTAA	0.453000													40	115					0	0	0.002522	0	0
CLIP4	79745	broad.mit.edu	37	2	29356568	29356568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:29356568G>A	ENST00000320081.5	+	5	670	c.415G>A	c.(415-417)Gga>Aga	p.G139R	CLIP4_ENST00000401617.2_Missense_Mutation_p.G32R|CLIP4_ENST00000401605.1_Missense_Mutation_p.G139R|CLIP4_ENST00000404424.1_Missense_Mutation_p.G139R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	139										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TATTGACCTGGGAGCAGACAT	0.353000													6	9					0	0	0.001984	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885198	50885198	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:50885198G>A	ENST00000404795.3	-	3	1160	c.768C>T	c.(766-768)tcC>tcT	p.S256S	DMRTA2_ENST00000418121.1_Silent_p.S256S	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	256	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGCCTCTTTGGAGGCCCGAG	0.716000													6	6					0	0	0.001168	0	0
CUL3	8452	broad.mit.edu	37	2	225422555	225422555	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:225422555A>G	ENST00000264414.4	-	2	423	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	CUL3_ENST00000409777.1_Missense_Mutation_p.Y5H|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409096.1_Missense_Mutation_p.Y5H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	29					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGTTTACATATTTTTCATCC	0.318000													18	24					0	0	0.007413	0	0
CREB5	9586	broad.mit.edu	37	7	28547242	28547242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:28547242C>T	ENST00000357727.2	+	4	568	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	CREB5_ENST00000396299.2_Missense_Mutation_p.P27S|CREB5_ENST00000396300.2_Missense_Mutation_p.P53S|CREB5_ENST00000409603.1_Missense_Mutation_p.P27S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	60					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGATCAAACTCCGACCCCAAC	0.522000													101	119					0	0	0.003610	0	0
COL15A1	1306	broad.mit.edu	37	9	101759282	101759282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:101759282G>A	ENST00000375001.3	+	6	1294	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	291	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGAAGACATGGAACTTTCTGG	0.493000													41	81					0	0	0.002522	0	0
GPR143	4935	broad.mit.edu	37	X	9714170	9714170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:9714170G>A	ENST00000467482.1	-	5	718	c.572C>T	c.(571-573)gCc>gTc	p.A191V	GPR143_ENST00000380929.2_Missense_Mutation_p.A211V			P51810	GP143_HUMAN	G protein-coupled receptor 143	191					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GTGGGGGATGGCGTGGTCCAG	0.498000													36	5					0	0	0.004289	0	0
RP1L1	94137	broad.mit.edu	37	8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:10467799G>A	ENST00000382483.3	-	4	4032	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1270					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517000													80	54					0	0	0.003610	0	0
SMPD3	55512	broad.mit.edu	37	16	68398948	68398948	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:68398948G>A	ENST00000219334.5	-	4	1974	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	SMPD3_ENST00000568373.1_Silent_p.I457I|SMPD3_ENST00000563226.1_Silent_p.I457I|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	457					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGTGCAGGCGATGTACCCGA	0.632000													17	28					0	0	0.002299	0	0
NDRG3	57446	broad.mit.edu	37	20	35293686	35293686	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:35293686G>A	ENST00000373803.2	-	11	767	c.711C>T	c.(709-711)atC>atT	p.I237I	NDRG3_ENST00000349004.1_Silent_p.I237I|NDRG3_ENST00000540765.1_Silent_p.I133I|NDRG3_ENST00000359675.2_Silent_p.I225I|NDRG3_ENST00000373773.3_Silent_p.I142I			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	237					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGGGTCTTTCGATCTCCAGGT	0.383000													102	113					0	0	0.003610	0	0
ZNF254	9534	broad.mit.edu	37	19	24310063	24310063	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:24310063C>G	ENST00000357002.4	+	4	1376	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	ZNF254_ENST00000342944.6_Missense_Mutation_p.L336V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	421					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCTTCAAATCTTACTACACA	0.348000													4	3					0	0	0.000602	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485349	97485349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:97485349G>A	ENST00000376705.2	+	2	1337	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	438						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CGGGAGGAGCGGAGGCTGCAG	0.597000													8	16					0	0	0.004482	0	0
COL24A1	255631	broad.mit.edu	37	1	86557978	86557978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:86557978G>A	ENST00000370571.2	-	6	1991	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	COL24A1_ENST00000436319.1_Missense_Mutation_p.S542F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	542	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGACCTGGGGAAAATCCTGG	0.303000													41	54					0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77454999	77454999	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77454999C>G	ENST00000451710.3	-	5	722	c.485G>C	c.(484-486)gGt>gCt	p.G162A	TRPM6_ENST00000360774.1_Missense_Mutation_p.G162A|TRPM6_ENST00000449912.2_Missense_Mutation_p.G157A|TRPM6_ENST00000361255.3_Missense_Mutation_p.G157A|TRPM6_ENST00000376872.3_Missense_Mutation_p.G162A|TRPM6_ENST00000376864.4_Missense_Mutation_p.G162A|TRPM6_ENST00000376871.3_Missense_Mutation_p.G162A|TRPM6_ENST00000359047.2_Missense_Mutation_p.G162A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	162					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTAACCAAACCTTGGCTGAA	0.453000													22	50					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:7578502A>C	ENST00000420246.2	-	5	560	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000455263.2_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000445888.2_Missense_Mutation_p.V143G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	2					0	0	0.001512	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85441190	85441190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:85441190G>A	ENST00000393217.2	+	6	681	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	207	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGAAAAGCGACATTGCTGG	0.313000													76	109					0	0	0.003610	0	0
C9orf40	55071	broad.mit.edu	37	9	77563005	77563005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77563005G>A	ENST00000376854.5	-	2	818	c.544C>T	c.(544-546)Cag>Tag	p.Q182*		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	182										lung(2)|stomach(1)	3						TTCCTGCCCTGAAGTGTTGCT	0.468000													45	49					0	0	0.003610	0	0
GADD45B	4616	broad.mit.edu	37	19	2477115	2477115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:2477115C>T	ENST00000215631.4	+	3	467	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	GADD45B_ENST00000587345.1_Nonsense_Mutation_p.Q79*	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	79					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	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)		CACGCTCATCCAGTCCTTCTG	0.637000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	85					0	0	0.004656	0	0
H1FNT	341567	broad.mit.edu	37	12	48723128	48723128	+	Silent	SNP	G	G	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:48723128G>T	ENST00000335017.1	+	1	366	c.54G>T	c.(52-54)ggG>ggT	p.G18G		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	18					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCAGAGGCGGGAGTGGGGCCA	0.652000													8	9					5.18039e-06	9.71323e-06	0.003080	1	0
DSG4	147409	broad.mit.edu	37	18	28992934	28992934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28992934G>A	ENST00000359747.4	+	15	2585	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.M833I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	833					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M833I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAAGCTGCATGGAAACTTTAG	0.433000													48	62					0	0	0.003610	0	0
SPEN	23013	broad.mit.edu	37	1	16262492	16262492	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:16262492C>A	ENST00000375759.3	+	11	9961	c.9757C>A	c.(9757-9759)Cct>Act	p.P3253T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3253	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA 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)		cgtccctgtccctgtccccct	0.672000													15	11					1.52009e-12	2.87149e-12	0.003163	1	0
MTCP1	4515	broad.mit.edu	37	X	154294261	154294261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:154294261G>A	ENST00000369476.3	-	2	604	c.25C>T	c.(25-27)Cca>Tca	p.P9S	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.P9S|MTCP1_ENST00000482244.1_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	9					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATCGGGTGGAGCCCCCACA	0.572000			T	TRA@	T cell prolymphocytic leukemia								34	8					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179433620	179433620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179433620C>T	ENST00000589042.1	-	326	77463	c.77239G>A	c.(77239-77241)Gag>Aag	p.E25747K	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16874K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16682K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16807K|TTN_ENST00000591111.1_Missense_Mutation_p.E24106K|TTN_ENST00000342992.6_Missense_Mutation_p.E23179K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24106	Fibronectin type-III 87.						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)			CGAGCACACTCTGACCATTTC	0.403000													10	20					0	0	0.006214	0	0
OR10G8	219869	broad.mit.edu	37	11	123900907	123900907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:123900907C>T	ENST00000431524.1	+	1	611	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GACACCTCAGCCATAGAGACT	0.507000													20	3					0	0	0.001216	0	0
SPNS3	201305	broad.mit.edu	37	17	4348461	4348461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:4348461C>T	ENST00000355530.2	+	3	680	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	134					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATCTCCCCCCGGGTACGTGT	0.622000													4	18					0	0	0.000602	0	0
GDA	9615	broad.mit.edu	37	9	74828907	74828907	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:74828907G>A	ENST00000358399.3	+	5	671	c.578_splice	c.e5+1	p.R193_splice	GDA_ENST00000545168.1_Splice_Site_p.R119_splice|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Splice_Site_p.R193_splice|GDA_ENST00000376986.1_Splice_Site_p.R151_splice|GDA_ENST00000376989.3_Splice_Site_p.R168_splice	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	193					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAAACTGAGAGGTAAAAGGCC	0.433000													13	17					0	0	0.001368	0	0
IKZF4	64375	broad.mit.edu	37	12	56428417	56428417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56428417G>A	ENST00000262032.5	+	12	1427	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	IKZF4_ENST00000547167.1_Missense_Mutation_p.E354K|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.E252K|IKZF4_ENST00000547791.1_Missense_Mutation_p.E309K			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	354					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGGCTATGAAAAGGATGT	0.577000													43	68					0	0	0.002852	0	0
ZNF157	7712	broad.mit.edu	37	X	47271915	47271915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:47271915G>A	ENST00000377073.3	+	4	529	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	148					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAAAACAGGCTTTGTTAGA	0.383000													20	5					0	0	0.002299	0	0
MYO7A	4647	broad.mit.edu	37	11	76924905	76924905	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:76924905G>A	ENST00000409709.3	+	48	6711	c.6438_splice	c.e48-1	p.D2147_splice	MYO7A_ENST00000409619.2_Splice_Site_p.D2098_splice|MYO7A_ENST00000458637.2_Splice_Site_p.D2107_splice|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2147	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCCCCCAGGATATCCTCAC	0.597000													41	52					0	0	0.002522	0	0
TP73	7161	broad.mit.edu	37	1	3644215	3644215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:3644215C>T	ENST00000378295.4	+	8	1021	c.866C>T	c.(865-867)tCc>tTc	p.S289F	TP73_ENST00000604479.1_Missense_Mutation_p.S289F|TP73_ENST00000603362.1_Missense_Mutation_p.S289F|TP73_ENST00000378288.4_Missense_Mutation_p.S240F|TP73_ENST00000604074.1_Missense_Mutation_p.S289F|TP73_ENST00000357733.3_Missense_Mutation_p.S289F|TP73_ENST00000378280.1_Missense_Mutation_p.S240F|TP73_ENST00000354437.4_Missense_Mutation_p.S289F|TP73_ENST00000378285.1_Missense_Mutation_p.S240F|TP73_ENST00000346387.4_Missense_Mutation_p.S289F|TP73_ENST00000378290.4_Missense_Mutation_p.S218F	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	289	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCCGCCGGTCCTTTGAGGGC	0.662000													13	18					0	0	0.003163	0	0
TOX3	27324	broad.mit.edu	37	16	52497973	52497973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:52497973G>A	ENST00000219746.9	-	3	565	c.281C>T	c.(280-282)cCa>cTa	p.P94L	TOX3_ENST00000407228.3_Missense_Mutation_p.P89L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	94					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGAAGGCAATGGATCGCTGAG	0.532000													22	18					0	0	0.001882	0	0
LRP1	4035	broad.mit.edu	37	12	57585108	57585108	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57585108C>T	ENST00000243077.3	+	44	7708	c.7242C>T	c.(7240-7242)atC>atT	p.I2414I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2414					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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)	CACAGGTGATCCTAAAGTCAG	0.627000													11	10					0	0	0.000673	0	0
SATL1	340562	broad.mit.edu	37	X	84363848	84363848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:84363848C>T	ENST00000509231.1	-	1	206	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	98	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGGTTCATTTCATATAGGCTT	0.448000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	2					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882624	228882624	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:228882624C>T	ENST00000392056.3	-	7	2992	c.2946G>A	c.(2944-2946)aaG>aaA	p.K982K	SPHKAP_ENST00000344657.5_Silent_p.K982K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	982						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCTCTCTTTCTTCCTCTTCA	0.527000													38	30					0	0	0.003755	0	0
SFXN5	94097	broad.mit.edu	37	2	73226139	73226139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:73226139G>A	ENST00000272433.2	-	9	603	c.473C>T	c.(472-474)tCa>tTa	p.S158L	SFXN5_ENST00000410065.1_Missense_Mutation_p.S158L|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	158					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGATGCAGGTGAAGGCTGGAA	0.572000													14	19					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141752626	141752626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141752626G>A	ENST00000475668.2	+	26	3055	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1001N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1001					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)	TTTTGTCAACGACCTATACTC	0.443000													13	15					0	0	0.003163	0	0
BCR	613	broad.mit.edu	37	22	23653935	23653935	+	Silent	SNP	C	C	T	rs148447062		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:23653935C>T	ENST00000305877.8	+	19	3985	c.3234C>T	c.(3232-3234)atC>atT	p.I1078I	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.I1034I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1078	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGAGGAGATCGAGCGCCGAG	0.632000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	2					0	0	0.000673	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131463	45131463	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:45131463G>A	ENST00000575173.1	-	0	418																											GAGATACGTGGGAAACGGCTG	0.483000													13	26					0	0	0.002450	0	0
NID2	22795	broad.mit.edu	37	14	52505568	52505568	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:52505568G>A	ENST00000216286.5	-	9	2153	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	NID2_ENST00000541773.1_Silent_p.F665F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	718	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTGGTGGGGAAGGACGGGT	0.527000													25	42					0	0	0.005443	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144810	34144810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:34144810C>T	ENST00000348547.2	+	11	1023	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	ERGIC3_ENST00000447986.1_Nonsense_Mutation_p.Q331*|ERGIC3_ENST00000357394.4_Nonsense_Mutation_p.Q321*|ERGIC3_ENST00000279052.6_Nonsense_Mutation_p.Q321*	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	316					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GTTGGGCGACCAAGGCCTTCC	0.607000													22	26					0	0	0.001882	0	0
MYH8	4626	broad.mit.edu	37	17	10304925	10304925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10304925C>T	ENST00000403437.2	-	23	2960	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	956					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATCAATGTCTTTCTTGAGT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				159	219					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24921102	24921102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:24921102C>T	ENST00000329468.2	+	1	562	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCCTGTCCCGGGACGCCTC	0.706000													10	9					0	0	0.006214	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103600051	103600051	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:103600051C>T	ENST00000560869.1	+	11	2373	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	TNFAIP2_ENST00000451723.2_Silent_p.L247L|TNFAIP2_ENST00000538222.1_Silent_p.L61L|TNFAIP2_ENST00000333007.1_Silent_p.L578L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	578					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGCCTGCTCTCCCTACGCTGG	0.637000													13	18					0	0	0.001855	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073723	44073723	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:44073723C>T	ENST00000446874.1	-	0	389																											GCCAGAGGCCCGATCTCGCAG	0.617000													9	7					0	0	0.000673	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802466	63802466	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:63802466G>A	ENST00000334025.2	+	1	341	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	5					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GTTCTGCACCGAATGGGCGCA	0.692000													12	14					0	0	0.000978	0	0
MRPS17P9	359760	broad.mit.edu	37	X	118513964	118513964	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:118513964G>A	ENST00000413240.1	-	0	491																											CCTGTGACAGGAAAACCTTGT	0.428000													41	3					0	0	0.005524	0	0
NLRP13	126204	broad.mit.edu	37	19	56410231	56410231	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56410231C>T	ENST00000588751.1	-	10	2886	c.2862G>A	c.(2860-2862)gtG>gtA	p.V954V	NLRP13_ENST00000342929.3_Silent_p.V954V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	954							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGATTTTCACATTATGAT	0.443000													21	30					0	0	0.002780	0	0
CKAP2L	150468	broad.mit.edu	37	2	113504016	113504016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:113504016G>A	ENST00000541405.1	-	6	1767	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	CKAP2L_ENST00000302450.6_Missense_Mutation_p.A580V			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	580						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTTTAATGGCCTCTTCATA	0.378000													71	75					0	0	0.003610	0	0
AMBP	259	broad.mit.edu	37	9	116835237	116835237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:116835237G>A	ENST00000265132.3	-	5	786	c.524C>T	c.(523-525)cCt>cTt	p.P175L		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	175					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGTCCTCAGGGATGCCCAC	0.617000													16	11					0	0	0.001216	0	0
AP4E1	23431	broad.mit.edu	37	15	51217358	51217358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:51217358C>T	ENST00000261842.5	+	5	590	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	AP4E1_ENST00000560508.1_Missense_Mutation_p.P87S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	162					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCAGATTTTCCCCTGCGAAAT	0.368000													18	13					0	0	0.004990	0	0
STAB1	23166	broad.mit.edu	37	3	52537850	52537850	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52537850C>T	ENST00000321725.6	+	9	1030	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	318					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGGCTGCTTCGCCTTCTGCT	0.657000													27	27					0	0	0.002096	0	0
DNAJA4	55466	broad.mit.edu	37	15	78562890	78562890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:78562890G>A	ENST00000394855.3	+	3	499	c.271G>A	c.(271-273)Gat>Aat	p.D91N	DNAJA4_ENST00000394852.3_Missense_Mutation_p.D62N|DNAJA4_ENST00000446172.2_Missense_Mutation_p.D35N|DNAJA4_ENST00000343789.3_Missense_Mutation_p.D62N	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	62	Gly-rich.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAAGAAAAGGGATGTTTATGA	0.423000													64	86					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40947888	40947888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:40947888C>T	ENST00000313164.9	+	8	1282	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	308	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CAATCTGGGTCGTTAGGAGGA	0.413000													15	7					0	0	0.004990	0	0
ALLC	55821	broad.mit.edu	37	2	3727481	3727481	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:3727481G>A	ENST00000252505.3	+	5	357	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	84							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGTCCTCAGGCTGGGGATCC	0.567000										HNSCC(21;0.051)			50	75					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9088636	9088636	+	Missense_Mutation	SNP	C	C	T	rs148517753	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9088636C>T	ENST00000397910.4	-	1	3382	c.3179G>A	c.(3178-3180)gGa>gAa	p.G1060E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1060	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						AGCTGTGGTTCCAATGGGCAG	0.483000													35	75					0	0	0.004878	0	0
PSD4	23550	broad.mit.edu	37	2	113942979	113942979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:113942979C>T	ENST00000245796.6	+	4	1406	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	PSD4_ENST00000441564.2_Missense_Mutation_p.P404L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	404					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAGGTCCTTTTTGGCCC	0.562000													54	62					0	0	0.003610	0	0
PRDM13	59336	broad.mit.edu	37	6	100056660	100056660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100056660C>T	ENST00000369214.1	+	2	479	c.218C>T	c.(217-219)tCc>tTc	p.S73F	PRDM13_ENST00000369215.4_Missense_Mutation_p.S63F	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	63	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TCGGGGGGCTCCCCTCTGGAG	0.612000													16	19					0	0	0.003163	0	0
C20orf26	26074	broad.mit.edu	37	20	20257922	20257922	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:20257922C>T	ENST00000245957.5	+	22	2692	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	C20orf26_ENST00000377309.2_Silent_p.S228S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	872										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGCCCGCCTCCACCATCACCT	0.612000													14	32					0	0	0.002299	0	0
HSPG2	3339	broad.mit.edu	37	1	22214013	22214013	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:22214013C>T	ENST00000374695.3	-	8	937	c.858G>A	c.(856-858)ggG>ggA	p.G286G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	286	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTCCTGGGGCCCACAGGGCA	0.662000													29	44					0	0	0.007291	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786281	127786281	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000464451.1_Silent_p.G337G|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483000													44	68					0	0	0.003610	0	0
LRRC3	81543	broad.mit.edu	37	21	45877014	45877014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:45877014G>A	ENST00000291592.4	+	2	804	c.487G>A	c.(487-489)Gac>Aac	p.D163N		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	163						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GCTGAAGCTGGACCCCGACTC	0.647000													19	37					0	0	0.001216	0	0
ITGB4	3691	broad.mit.edu	37	17	73745123	73745123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73745123C>T	ENST00000200181.3	+	27	3500	c.3313C>T	c.(3313-3315)Cca>Tca	p.P1105S	ITGB4_ENST00000339591.3_Missense_Mutation_p.P1105S|ITGB4_ENST00000450894.3_Missense_Mutation_p.P1105S|ITGB4_ENST00000449880.2_Missense_Mutation_p.P1105S|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1105S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1105					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCAGGGACCCAGGTAGGCA	0.617000													12	16					0	0	0.001368	0	0
RPL6	6128	broad.mit.edu	37	12	112846077	112846077	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:112846077G>A	ENST00000424576.2	-	3	488	c.303C>T	c.(301-303)aaC>aaT	p.N101N	RPL6_ENST00000202773.9_Silent_p.N101N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	101					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						GGGTACCGCCGTTCTTGTCAC	0.398000													67	66					0	0	0.003610	0	0
F11	2160	broad.mit.edu	37	4	187201261	187201261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:187201261G>A	ENST00000264692.4	+	8	1028	c.695G>A	c.(694-696)aGg>aAg	p.R232K	F11_ENST00000403665.2_Missense_Mutation_p.R284K			P03951	FA11_HUMAN	coagulation factor XI	284	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAAAGCTGCAGGCACAGCATC	0.483000													23	1					0	0	0.001882	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134019	233134019	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:233134019G>A	ENST00000258229.8	-	32	6003	c.5769C>T	c.(5767-5769)tcC>tcT	p.S1923S	PCNXL2_ENST00000344698.2_Silent_p.S575S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1923						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)				TCCCTTCACAGGATGACACCC	0.587000													11	11					0	0	0.000673	0	0
PDE6D	5147	broad.mit.edu	37	2	232603828	232603828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:232603828G>A	ENST00000287600.4	-	2	315	c.121C>T	c.(121-123)Cct>Tct	p.P41S	PDE6D_ENST00000409772.1_Missense_Mutation_p.P41S	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	41					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TCCACACCAGGGACAGACAGG	0.453000													56	55					0	0	0.003610	0	0
DUSP21	63904	broad.mit.edu	37	X	44703447	44703447	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:44703447C>T	ENST00000339042.4	+	1	199	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	23	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						ACAGCTTCTCCCAAATAACCA	0.552000													52	12					0	0	0.003610	0	0
CTD-2012J19.3	0	broad.mit.edu	37	5	1602629	1602629	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:1602629G>A	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA																							aacatacacggagagacgtga	0.413000													5	1					0	0	0.000602	0	0
CFTR	1080	broad.mit.edu	37	7	117251700	117251700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:117251700G>A	ENST00000003084.6	+	20	3337	c.3205G>A	c.(3205-3207)Gga>Aga	p.G1069R	CFTR_ENST00000454343.1_Missense_Mutation_p.G1008R|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1069	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCGTGCCTTCGGACGGCAGCC	0.418000									Cystic Fibrosis				5	8					0	0	0.001168	0	0
IFNW1	3467	broad.mit.edu	37	9	21141194	21141194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:21141194C>T	ENST00000380229.2	-	1	950	c.376G>A	c.(376-378)Gta>Ata	p.V126I		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	126					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTCCCACTACCTGCAGCAAG	0.537000													6	12					0	0	0.001984	0	0
FAM189B	10712	broad.mit.edu	37	1	155217900	155217900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:155217900G>A	ENST00000361361.2	-	11	2283	c.1774C>T	c.(1774-1776)Ctc>Ttc	p.L592F	FAM189B_ENST00000350210.2_Missense_Mutation_p.L496F|FAM189B_ENST00000368368.3_Missense_Mutation_p.L574F	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	592						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATATCTGGAGGAAACGAGTG	0.602000													21	20					0	0	0.001882	0	0
SYTL2	54843	broad.mit.edu	37	11	85437466	85437466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:85437466G>A	ENST00000359152.5	-	1	1605	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P12S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P12S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	43					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AACTGAGAGGGATTATAGACC	0.363000													32	62					0	0	0.005524	0	0
UMOD	7369	broad.mit.edu	37	16	20357650	20357650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:20357650G>A	ENST00000396134.2	-	6	1202	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	UMOD_ENST00000396138.4_Missense_Mutation_p.S376F|UMOD_ENST00000302509.4_Missense_Mutation_p.S327F|UMOD_ENST00000570689.1_Missense_Mutation_p.S327F|UMOD_ENST00000424589.1_Missense_Mutation_p.S360F|UMOD_ENST00000396142.2_Missense_Mutation_p.S327F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	327	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCCAGGAGGGAGATATCTGA	0.582000													40	36					0	0	0.002522	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408194	105408194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:105408194G>A	ENST00000333244.5	-	7	13713	c.13594C>T	c.(13594-13596)Cca>Tca	p.P4532S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4532						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCCTTCTGGAAGTTTCAAG	0.622000													67	60					0	0	0.003610	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146119	31146119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:31146119G>A	ENST00000304166.4	+	16	1517	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E438K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E466K|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E389K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGTACAAGCGGAGATCAAGCG	0.617000													11	23					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124380647	124380647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:124380647C>T	ENST00000368909.3	+	41	5078	c.4972C>T	c.(4972-4974)Cga>Tga	p.R1658*	DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1648*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1030*|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1030*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1648*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.R1658*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1658	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCCTGTATCGAGGCTCCTG	0.592000													183	23					0	0	0.003610	0	0
GABRG3	2567	broad.mit.edu	37	15	27773137	27773137	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:27773137C>T	ENST00000333743.6	+	9	1375	c.1122_splice	c.e9+1	p.S374_splice	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	374					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAAGCCCCTTCCGTACGTATA	0.373000													3	3					0	0	0.004672	0	0
ZAK	51776	broad.mit.edu	37	2	174047580	174047580	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:174047580A>G	ENST00000338983.3	+	4	442		c.e4-1		MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA	NM_133646.2	NP_598407.1																					CTTTTAAAATAGAATATGCTT	0.299000													3	14					0	0	0.004672	0	0
MIR200A	406983	broad.mit.edu	37	1	1103313	1103313	+	RNA	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:1103313G>A	ENST00000384875.1	+	0	71					NR_029834.1																						GTCTGGTAACGATGTTCAAAG	0.667000													6	5					0	0	0.001984	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170045	118170045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:118170045G>A	ENST00000427715.2	+	7	821	c.387G>A	c.(385-387)atG>atA	p.M129I	SLC30A8_ENST00000456015.2_Missense_Mutation_p.M178I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.M129I|SLC30A8_ENST00000519688.1_Missense_Mutation_p.M129I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	178					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547000													81	129					0	0	0.003610	0	0
ADCY10	55811	broad.mit.edu	37	1	167798661	167798661	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167798661C>T	ENST00000367848.1	-	26	3815	c.3317_splice	c.e26-1	p.G1106_splice	ADCY10_ENST00000367851.4_Splice_Site_p.G1198_splice|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Splice_Site_p.G1045_splice			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1198					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|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						GCCTCTTCTTCCTATTGGATA	0.448000													20	48					0	0	0.003954	0	0
BPI	671	broad.mit.edu	37	20	36964043	36964043	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:36964043C>T	ENST00000262865.4	+	14	1481	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	464					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CGGCCAGAGTCCAGCTCTACA	0.552000													43	35					0	0	0.003610	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406749	158406749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:158406749G>A	ENST00000243349.7	-	4	1060	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ACVR1C_ENST00000335450.7_Missense_Mutation_p.R154C|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R184C	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	234	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCTGCCTCACGAAACCAAGAT	0.428000													57	56					0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	31983716	31983716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:31983716C>T	ENST00000438447.1	+	3	1320	c.932C>T	c.(931-933)tCa>tTa	p.S311L	PDZD2_ENST00000282493.3_Missense_Mutation_p.S311L			O15018	PDZD2_HUMAN	PDZ domain containing 2	311					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGCCGCTTCTCAAAAGGTGGG	0.473000													28	16					0	0	0.002096	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419869	25419869	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:25419869C>T	ENST00000315368.3	+	29	2434	c.2292C>T	c.(2290-2292)gcC>gcT	p.A764A	ANAPC4_ENST00000510092.1_Silent_p.A765A	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	764					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGGAGGAGGCCAGTAATAAGC	0.423000													29	6					0	0	0.002096	0	0
PRSS38	339501	broad.mit.edu	37	1	228033873	228033873	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228033873C>T	ENST00000366757.3	+	5	969	c.945C>T	c.(943-945)gtC>gtT	p.V315V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	315					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCTCAGCGTCCTAATGGCCA	0.572000													34	54					0	0	0.002222	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729195	18729195	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:18729195C>T	ENST00000600490.1	+	8	978	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	TMEM59L_ENST00000262817.3_Silent_p.L265L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	265						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCGCTCGGGTCTGCCTCGCTG	0.706000													19	15					0	0	0.001216	0	0
ASCC3	10973	broad.mit.edu	37	6	101166001	101166001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:101166001G>A	ENST00000369162.2	-	12	2373	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R677*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTACTGGTCGAAAACGGCCA	0.338000													11	17					0	0	0.000978	0	0
ZNF831	128611	broad.mit.edu	37	20	57768585	57768585	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:57768585G>A	ENST00000371030.2	+	1	2511	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	837						intracellular	nucleic acid binding|zinc ion binding			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)					AGCAACCAGAGCCTGTGAGCG	0.637000													15	30					0	0	0.006122	0	0
DRD1	1812	broad.mit.edu	37	5	174869361	174869361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:174869361C>T	ENST00000393752.2	-	2	1734	c.742G>A	c.(742-744)Gga>Aga	p.G248R		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	248					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ACAGGCTTTCCATTACCTGTG	0.483000													63	57					0	0	0.003610	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407723	75407723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:75407723C>T	ENST00000394810.2	-	4	1836	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	SYNPO2L_ENST00000372872.4_Missense_Mutation_p.G563R|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.G339R	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	563	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCTGGAGCTCCACCTGGGGTG	0.672000													13	2					0	0	0.001855	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118216	34118216	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:34118216C>T	ENST00000341394.4	+	16	2085	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	CAPRIN1_ENST00000530820.1_Silent_p.F632F|CAPRIN1_ENST00000532820.1_Silent_p.F632F|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Silent_p.F632F|CAPRIN1_ENST00000529307.1_Silent_p.F551F	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	632					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CCAATGGATTCAGAGGTAAAA	0.403000													15	24					0	0	0.003163	0	0
SMAD2	4087	broad.mit.edu	37	18	45395657	45395657	+	Silent	SNP	T	T	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:45395657T>C	ENST00000402690.2	-	4	871	c.477A>G	c.(475-477)gaA>gaG	p.E159E	SMAD2_ENST00000356825.4_Silent_p.E129E|SMAD2_ENST00000262160.6_Silent_p.E159E|SMAD2_ENST00000591214.1_Silent_p.E129E|SMAD2_ENST00000586040.1_Silent_p.E129E|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	159	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTACACATACTTCATCCTTTT	0.363000													9	11					0	0	0.006214	0	0
OR6B3	150681	broad.mit.edu	37	2	240985329	240985329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240985329G>A	ENST00000319423.4	-	1	160	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCTGTGGAGGGAGGTGCTGCT	0.567000													19	76					0	0	0.002780	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264571	123264571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:123264571C>T	ENST00000264501.4	+	73	12732	c.12359C>T	c.(12358-12360)tCg>tTg	p.S4120L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4120L			Q2LD37	K1109_HUMAN	KIAA1109	4120	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGGTTCATCGGGATTAGGC	0.433000													7	2					0	0	0.004482	0	0
FCGR3B	2215	broad.mit.edu	37	1	161595948	161595948	+	Silent	SNP	G	G	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:161595948G>A	ENST00000294800.3	-	4	837	c.564C>T	c.(562-564)atC>atT	p.I188I	FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000367964.2_Silent_p.I188I|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.I224I	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	188					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTGATGGTGATGTTCACAG	0.517000													8	78					0	0	0.001368	0	0
FBLN7	129804	broad.mit.edu	37	2	112940465	112940465	+	Silent	SNP	C	C	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:112940465C>A	ENST00000331203.2	+	6	1039	c.768C>A	c.(766-768)ccC>ccA	p.P256P	FBLN7_ENST00000409450.3_Silent_p.P210P|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Silent_p.P256P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	256	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCACCTGCCCCGGTGGATACC	0.647000													26	39					2.41591e-17	4.60391e-17	0.004656	1	0
CNTN4	152330	broad.mit.edu	37	3	2942404	2942404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:2942404C>T	ENST00000397461.1	+	10	1360	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	CNTN4_ENST00000418658.1_Missense_Mutation_p.H326Y|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_5'UTR|CNTN4_ENST00000448906.2_5'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.H107Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.H326Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	326	Ig-like C2-type 4.				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)		AAATGATATTCACGTGGCCAT	0.363000													35	53					0	0	0.006230	0	0
C17orf74	201243	broad.mit.edu	37	17	7330297	7330297	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:7330297C>T	ENST00000333870.3	+	3	1061	c.987C>T	c.(985-987)tcC>tcT	p.S329S	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	329						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTCGGTGTCCCGGAACGCCC	0.692000													8	3					0	0	0.003080	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712776	1712776	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:1712776C>T	ENST00000313871.3	+	2	617	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	AKAP17A_ENST00000381261.3_Silent_p.L141L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	141					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAACGAGACCCTGCCGGGGGA	0.667000													68	17					0	0	0.003610	0	0
MROH8	140699	broad.mit.edu	37	20	35742546	35742546	+	Silent	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:35742546C>T	ENST00000400441.3	-	20	2537	c.2538G>A	c.(2536-2538)gtG>gtA	p.V846V	MROH8_ENST00000217333.8_Silent_p.V675V|MROH8_ENST00000441008.2_Silent_p.V832V					maestro heat-like repeat family member 8																		CATCAGATCTCACCTGGGAAG	0.473000													8	6					0	0	0.003080	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667675	106667675	+	RNA	SNP	C	C	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:106667675C>T	ENST00000390606.2	-	0	318																											GATGGTGAATCGGCCCTTCAC	0.537000													67	71					0	0	0.003610	0	0
ARID1A	8289	broad.mit.edu	37	1	27106022	27106023	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:27106022_27106023insT	ENST00000324856.7	+	20	6004_6005	c.5633_5634insT	c.(5632-5634)ccgfs	p.P1878fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P1661fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.P206fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P1495fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1878					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACCAGCCCCTCGGAAGCATG	0.614			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								72	58	---	---	---	---					
LINC00570	100874055	broad.mit.edu	37	2	11542812	11542814	+	RNA	DEL	CCA	CCA	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:11542812_11542814delCCA	ENST00000417473.2	+	0	939_941					NR_047499.1																						gccatcaccgccaccaccaccac	0.586													2	4	---	---	---	---					
CCNG1	900	broad.mit.edu	37	5	162866446	162866447	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:162866446_162866447insTA	ENST00000340828.2	+	2	408_409	c.184_185insTA	c.(184-186)aacfs	p.N62fs	CCNG1_ENST00000511683.2_Intron|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000512163.1_Intron|CCNG1_ENST00000393929.1_Frame_Shift_Ins_p.N62fs|CCNG1_ENST00000510664.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	62					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TCTTCTTAGTCTAACTCAGTTC	0.391													37	49	---	---	---	---					
CFB	629	broad.mit.edu	37	6	31895549	31895549	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31895549delT	ENST00000556679.1	+	1	75	c.20delT	c.(19-21)ctfs	p.L7fs	C2_ENST00000299367.5_Frame_Shift_Del_p.L7fs|C2_ENST00000442278.2_Frame_Shift_Del_p.L7fs|C2_ENST00000418949.2_Frame_Shift_Del_p.L7fs|CFB_ENST00000456570.1_Frame_Shift_Del_p.L7fs|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Frame_Shift_Del_p.L7fs|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGATGGTTCTTTTTTGCCTG	0.582													7	1230	---	---	---	---					
RP11-196I18.4	0	broad.mit.edu	37	9	109879905	109879905	+	RNA	DEL	T	T	-	rs58457085		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:109879905delT	ENST00000427833.1	-	0	234																											ATGAAAGCTATTTTTTTAAAT	0.294													7	9	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													2	4	---	---	---	---					
RP11-179A10.1	0	broad.mit.edu	37	11	11157633	11157633	+	RNA	DEL	T	T	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:11157633delT	ENST00000525758.1	+	0	108																											GACCAGATGGTTTTCCATTTA	0.383													2	4	---	---	---	---					
KDM4D	55693	broad.mit.edu	37	11	94730806	94730807	+	Frame_Shift_Ins	INS	-	-	A	rs142280183	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:94730806_94730807insA	ENST00000335080.5	+	3	1102_1103	c.270_271insA	c.(268-273)caaaaafs	p.QK90fs	KDM4D_ENST00000536741.1_Frame_Shift_Ins_p.QK90fs	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAATACCATAAAAAAAAGAA	0.455													7	490	---	---	---	---					
BANP	54971	broad.mit.edu	37	16	88052139	88052139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:88052139delG	ENST00000393207.1	+	7	958	c.737delG	c.(736-738)ccfs	p.R246fs	BANP_ENST00000355022.4_Frame_Shift_Del_p.R215fs|BANP_ENST00000355163.5_Frame_Shift_Del_p.R221fs|BANP_ENST00000286122.7_Frame_Shift_Del_p.R246fs|BANP_ENST00000393208.2_Frame_Shift_Del_p.R215fs|BANP_ENST00000538234.1_Frame_Shift_Del_p.R254fs|BANP_ENST00000479780.2_Frame_Shift_Del_p.R215fs	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	246	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACCAACTGCCGCACGGCCGAG	0.642													6	13	---	---	---	---