Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAT2	134637	broad.mit.edu	37	6	143759801	143759801	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr6:143759801G>A	uc003qjj.3	-	1	173	c.127C>T	c.(127-129)Cct>Tct	p.P43S	ADAT2_uc003qjk.1_Non-coding_Transcript	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 2 (ADAT2), mRNA.	43					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CAGCCAACAGGAACTTCAGTA	0.388000														2			25		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068572	103068572	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:103068572G>A	uc002tbx.3	+	11	2215	c.1731G>A	c.(1729-1731)agG>agA	p.R577R	IL18RAP_uc010fiz.3_Silent_p.R435R	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	577					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTACCTCTAGGATTTTTCAGT	0.512000														55			49		0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38416832	38416832	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:38416832C>T	uc002hug.1	+	2	349	c.109C>T	c.(109-111)Cga>Tga	p.R37*	WIPF2_uc010cwv.1_Nonsense_Mutation_p.R37*|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Nonsense_Mutation_p.R37*|WIPF2_uc010cwx.1_Nonsense_Mutation_p.R37*|WIPF2_uc010cwy.1_Nonsense_Mutation_p.R37*	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	37	WH2.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GCAGCGGGGTCGAGGCGCCCT	0.522000										HNSCC(43;0.11)				28			15		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621474	74621474	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:74621474C>T	uc002jsh.3	-	8	1915	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.D449N|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	581					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ATCCCTTCATCGTGTAGCCGC	0.532000														28			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181684487	181684487	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:181684487C>T	uc009wxt.3	+	8	1380	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	CACNA1E_uc001gow.3_Silent_p.L395L|CACNA1E_uc009wxs.3_Silent_p.L395L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	395					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAGTCATGCTCGCTGAAGAAA	0.398000														4			4		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510497	101510497	+	Nonsense_Mutation	SNP	C	T	T	rs145182702		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:101510497C>T	uc010svm.1	+	24	3063	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	ANO4_uc001thw.2_Nonsense_Mutation_p.R796*|ANO4_uc001thx.2_Nonsense_Mutation_p.R831*|ANO4_uc001thy.2_Nonsense_Mutation_p.R351*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	831						chloride channel complex	chloride channel activity	p.R796*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTCTGTATTTCGAATTTCTGA	0.483000										HNSCC(74;0.22)				9			41		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115217461	115217462	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:115217461_115217462GG>AA	uc001efe.2	-	12	1858_1859	c.1810_1811CC>TT	c.(1810-1812)cct>TTt	p.P604F	AMPD1_uc001eff.2_Missense_Mutation_p.P600F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	571					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TCCACAGTGAGGTCGGAACAGA	0.446000														21			19		0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41923423	41923423	+	Splice_Site	SNP	C	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:41923423C>A	uc003bac.3	+	16	2108	c.2086_splice	c.e16+1	p.E696_splice	POLR3H_uc003baf.3_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	696					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAGGATCCACGGTGAGCTGG	0.627000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			23		7.92952e-12	7.98982e-12	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95728961	95728961	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:95728961C>T	uc003kls.2	-	13	2245	c.2006G>A	c.(2005-2007)cGa>cAa	p.R669Q	PCSK1_uc010jbi.2_Missense_Mutation_p.R359Q|PCSK1_uc021ybq.1_Missense_Mutation_p.R622Q	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	669					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R669Q(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGCAGGAGTCGCAGCATGGC	0.542000														2			38		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116412	28116412	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:28116412C>T	uc001rik.3	-	2	696	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PTHLH_uc001ril.3_Silent_p.G131G|PTHLH_uc001rim.3_Silent_p.G131G|PTHLH_uc001rin.3_Silent_p.G131G	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	131					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.P130P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CCTTGCGTTTCCCGGGCTTGC	0.522000														50			35		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518778	113518778	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:113518778C>T	uc010ljy.1	-	3	2400	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	790					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TACTGTATCTCGTTGACAAAG	0.398000														23			21		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35749373	35749373	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:35749373C>T	uc010zvu.2	-	16	2134	c.2043G>A	c.(2041-2043)atG>atA	p.M681I	C20orf132_uc002xgk.3_Missense_Mutation_p.M313I	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TATTCTTTTCCATGATGTTGA	0.453000														8			10		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81372774	81372774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:81372774C>T	uc003uhl.3	-	6	925	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	HGF_uc003uhm.3_Missense_Mutation_p.G249S|HGF_uc003uhn.1_Missense_Mutation_p.G254S|HGF_uc003uho.1_Missense_Mutation_p.G249S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	254	Kringle 2.				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	p.G254D(1)		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						TCATCAAAGCCCTTGTCGGGA	0.493000														22			15		0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357090	82357090	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:82357090C>T	uc003ycb.1	-	1	306	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	70						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTTCAAATTCCTGGCCTAGC	0.398000														23			63		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120833	38120833	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:38120833C>T	uc003atr.3	+	6	2541	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	TRIOBP_uc003atu.3_Missense_Mutation_p.S585F|TRIOBP_uc003atq.1_Missense_Mutation_p.S757F|TRIOBP_uc003ats.1_Missense_Mutation_p.S585F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	757					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCTAAC	0.567000														36			27		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7483255	7483255	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:7483255G>A	uc003src.1	-	19	1728	c.1611C>T	c.(1609-1611)ggC>ggT	p.G537G	COL28A1_uc011jxe.1_Silent_p.G220G|COL28A1_uc003srd.3_Silent_p.G92G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	537	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTCCTTCTGGGCCTCTTGCTC	0.542000														19			15		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36708162	36708162	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:36708162G>A	uc003apg.3	-	13	1891	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	MYH9_uc003aph.1_Missense_Mutation_p.P418S	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	554	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.P554T(2)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAACTTGGGGTGGGTGCCC	0.612000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					53			33		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904535	190904535	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:190904535G>A	uc011clg.2	-	3	450	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	150					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CTAATGAGAAGGGTACCCATC	0.557000														2			15		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672668	141672668	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:141672668G>A	uc003vwx.1	-	0	906	c.822C>T	c.(820-822)cgC>cgT	p.R274R		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R274C(1)|p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTATTTTGTCGCGCCACAGAA	0.502000														36			5		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500810	66500810	+	RNA	SNP	G	A	A	rs142815546	by1000genomes	TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:66500810G>A	uc004aed.1	+	2		c.903G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		ACCTACGGTCGGTTGTGTGCA	0.637000														17			4		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409763	19409763	+	RNA	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr13:19409763C>T	uc010tcj.1	-	0		c.36347G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCCACTTTCCAGTGGATTTA	0.378000														37			31		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86240815	86240815	+	Missense_Mutation	SNP	C	T	T	rs121909577		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:86240815C>T	uc022axc.1	-	6	839	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.G254S|CA1_uc022axd.1_Missense_Mutation_p.G254S|CA1_uc010mae.2_Missense_Mutation_p.G254S|CA1_uc003ydi.3_Missense_Mutation_p.G254S	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	254			G -> R (in Guam).		one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTGTTCTGCCCTTCAGAGGT	0.448000														28			77		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44478320	44478320	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr21:44478320G>A	uc002zcu.2	-	14	1647	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CBS_uc002zcs.1_Silent_p.L363L|CBS_uc002zct.2_Silent_p.L468L|CBS_uc002zcw.3_Silent_p.L468L|CBS_uc002zcv.2_Silent_p.L468L	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	468	CBS.				L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCGGCAAGCAGGGACGAGAGC	0.587000														18			12		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914373	10914373	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr21:10914373C>T	uc002yip.1	-	20	1714	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G431E|TPTE_uc002yir.1_Missense_Mutation_p.G411E|TPTE_uc010gkv.1_Missense_Mutation_p.G311E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	449	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGAACATTTTCCTAATGAAAT	0.318000														24			5		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245723	202245723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:202245723G>A	uc002uyb.4	-	15	2734	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	763				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGCTGGAGGGGGTTCTCTGA	0.517000														46			52		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130829	52130829	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:52130829G>A	uc002pxe.3	-	5	1307	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	390					cell adhesion	integral to membrane	sugar binding	p.P390L(1)|p.G389V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTGGCCCAGGGCCCAGCTGAG	0.657000														25			29		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971575	79971575	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:79971575G>A	uc010ysh.2	+	1	170	c.165G>A	c.(163-165)aaG>aaA	p.K55K	CTNNA2_uc010yse.2_Silent_p.K55K|CTNNA2_uc010ysf.2_Silent_p.K55K|CTNNA2_uc010ysg.2_Silent_p.K55K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	55					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						GGAGGTCAAAGAAAGCCCATG	0.413000														13			15		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135998	51135998	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:51135998G>A	uc002pst.3	-	1	853	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SYT3_uc002psv.3_Silent_p.F73F|SYT3_uc010ycd.2_Silent_p.F73F	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	73						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCAGGACACGAAGAGAGAGA	0.627000														55			27		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328992	243328992	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:243328992G>A	uc021plo.1	-	12	2678	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	CEP170_uc021plp.1_Missense_Mutation_p.A659V|CEP170_uc021plq.1_Missense_Mutation_p.A659V|CEP170_uc001hzv.1_Missense_Mutation_p.A135V	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	757						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTCCACTGAGCCTCCTCCCT	0.378000														98			21		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164286	95164286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:95164286G>A	uc003ygh.2	-	12	1731	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S	CDH17_uc011lgo.1_Missense_Mutation_p.P322S|CDH17_uc011lgp.1_Missense_Mutation_p.P536S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	536	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGAGGCTCAGGATTTTCTGCT	0.403000														61			14		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116632264	116632264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:116632264G>A	uc003yny.3	-	2	639	c.61C>T	c.(61-63)Cct>Tct	p.P21S	TRPS1_uc011lhy.2_Missense_Mutation_p.P12S|TRPS1_uc003ynz.3_Missense_Mutation_p.P8S|TRPS1_uc010mcy.3_Missense_Mutation_p.P8S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	8					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCTCAGAGGGGGGTTCTTT	0.418000									Langer-Giedion syndrome					51			13		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281253	158281253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:158281253C>T	uc003ipm.4	+	12	2708	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	GRIA2_uc011cit.2_Missense_Mutation_p.S703F|GRIA2_uc003ipl.4_Missense_Mutation_p.S750F|GRIA2_uc003ipk.4_Missense_Mutation_p.S703F|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.S60F|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.S60F|GRIA2_uc011ciy.1_Missense_Mutation_p.S60F|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	750					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACCTGGATTCCAAAGGCTAT	0.438000														18			15		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161044465	161044465	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:161044465G>A	uc001fxo.2	-	4	1235	c.936C>T	c.(934-936)atC>atT	p.I312I	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.I46I	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	312	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGACGTAGATGCCGCTGT	0.562000														25			11		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951170	38951170	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:38951170T>C	uc002oit.3	+	19	2646	c.2516T>C	c.(2515-2517)gTg>gCg	p.V839A	RYR1_uc002oiu.3_Missense_Mutation_p.V839A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	839					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCACCTGGTGGGCCCCAGT	0.642000														44			44		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231817	21231817	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:21231817G>A	uc002red.3	-	25	8051	c.7923C>T	c.(7921-7923)atC>atT	p.I2641I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2641					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.I2641L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCTGGATGGGATTTTTATAT	0.353000														46			45		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380960	22380960	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:22380960G>A	uc001mqk.3	+	4	872	c.459_splice	c.e4-1	p.R153_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	153					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTATTTCAGGGTTTTCGGAGC	0.343000														11			16		0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149983391	149983391	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:149983391G>A	uc004fek.3	-	3	461	c.233C>T	c.(232-234)gCt>gTt	p.A78V	CD99L2_uc011myb.2_Missense_Mutation_p.A74V|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.A74V|CD99L2_uc004fem.3_Intron|CD99L2_uc004fen.3_Intron	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	74					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCATCAGCCAAGTCCAA	0.438000														47			46		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743354	51743354	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:51743354C>T	uc010hlv.3	+	1	594	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	119					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGGCTCACGCCACATCTGCCC	0.582000														32			31		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66948194	66948194	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:66948194C>T	uc002eql.3	-	6	899	c.705G>A	c.(703-705)gaG>gaA	p.E235E	CDH16_uc010cdy.3_Silent_p.E235E|CDH16_uc021tjx.1_Silent_p.E235E|CDH16_uc002eqm.3_Silent_p.E138E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCAGGTGCTCTCTATGATGG	0.587000														37			32		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536292	141536292	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:141536292C>T	uc003vws.2	-	4	983	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PRSS37_uc011krl.2_Missense_Mutation_p.G203E|PRSS37_uc011krk.2_Missense_Mutation_p.G191E|PRSS37_uc003vwt.2_Missense_Mutation_p.G191E	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Q203K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CACCTCGATTCCCTGGAGCTT	0.498000														32			30		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379183	23379183	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:23379183C>T	uc002dln.3	+	4	959	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	261					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTAGGAACTTCACGTCCATCT	0.532000														51			24		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089610	86089610	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:86089610G>A	uc021rxf.1	+	0	1752	c.1752G>A	c.(1750-1752)cgG>cgA	p.R584R	FLRT2_uc001xvr.3_Silent_p.R584R|FLRT2_uc010atd.3_Silent_p.R584R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	584					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R583W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGGCCGGCGGAAAGATGATT	0.493000														64			41		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647077	14647077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:14647077C>T	uc003ssz.3	-	15	1605	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	DGKB_uc011jxt.2_Missense_Mutation_p.G454E|DGKB_uc003sta.3_Missense_Mutation_p.G473E|DGKB_uc011jxu.2_Missense_Mutation_p.G472E	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	473	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGTCCATTTCCAGAAAGACT	0.294000														10			10		0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763490	56763490	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:56763490G>A	uc003dih.2	-	12	1595	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	ARHGEF3_uc011bew.1_Silent_p.S463S|ARHGEF3_uc011bev.1_Silent_p.S434S|ARHGEF3_uc003dif.2_Silent_p.S469S|ARHGEF3_uc003dig.2_Silent_p.S463S|ARHGEF3_uc010hmy.1_Silent_p.S261S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	463					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACGATCCCTCGGAGTCAAGCA	0.498000														38			34		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64878928	64878928	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:64878928T>C	uc001ocr.1	+	9	2258	c.2218T>C	c.(2218-2220)Tgg>Cgg	p.W740R	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.W616R	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	740					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GCTCTACCTGTGGCGTTTTGT	0.637000														31			23		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36495408	36495408	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:36495408C>T	uc002hpz.3	-	2	816	c.795_splice	c.e2-1	p.R265_splice		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	265						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCACCTGCCCCCTACGGCAGT	0.527000														14			19		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228497	3228497	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:3228497C>T	uc004crg.4	-	6	7904	c.7747G>A	c.(7747-7749)Gat>Aat	p.D2583N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2583	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTGCAGATCGGTGCCATTG	0.647000														4			7		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905351	15905351	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:15905351C>T	uc010xos.2	+	0	493	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGCCATTTTCCACCTCGCCTT	0.597000														36			20		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099719	50099719	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:50099719C>T	uc002poo.4	+	3	2127	c.2127C>T	c.(2125-2127)agC>agT	p.S709S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	432	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGTGCCAGCCTGGATGAGG	0.682000														13			9		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059147	248059147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:248059147G>A	uc010pzb.2	+	0	259	c.259G>A	c.(259-261)Gga>Aga	p.G87R	OR2W3_uc001idp.1_Missense_Mutation_p.G87R	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			CAACCTTAATGGATGTGACAA	0.567000														60			41		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867321	6867321	+	Silent	SNP	C	T	T	rs139750997	byFrequency	TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:6867321C>T	uc001met.1	+	0	408	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCCAGTCATCATGAACCAAA	0.512000														24			51		0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20939959	20939959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:20939959G>A	uc002rec.3	-	4	508	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	C2orf43_uc010ykb.1_Missense_Mutation_p.R29C|C2orf43_uc010ykc.1_Missense_Mutation_p.R111C|C2orf43_uc010ykd.1_Intron|C2orf43_uc010ykf.1_Missense_Mutation_p.R29C|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.R117C|C2orf43_uc010yka.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	159										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGGCACGAATTACCTGC	0.383000														19			13		0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258585	97258585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:97258585C>T	uc003yhs.1	-	4	853	c.775G>A	c.(775-777)Gat>Aat	p.D259N	MTERFD1_uc003yhr.1_Missense_Mutation_p.D138N|MTERFD1_uc010mbd.1_Missense_Mutation_p.D259N	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	259					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AATCTGTTATCCAGTCTTTCC	0.348000														15			31		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040061	31040061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:31040061G>A	uc002nsu.1	+	3	3673	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N	ZNF536_uc010edd.1_Missense_Mutation_p.D1179N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D1179N(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGAACAACGATGAAGAGGA	0.557000														25			16		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13192528	13192528	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:13192528C>T	uc010xmx.2	+	7	1190	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	NFIX_uc002mwd.3_Silent_p.F371F|NFIX_uc002mwe.3_Silent_p.F363F|NFIX_uc002mwf.3_Silent_p.F333F|NFIX_uc002mwg.2_Silent_p.F370F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	371					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCCTGCACTTCCCCTCCACGT	0.642000														25			20		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46256364	46256364	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:46256364C>T	uc002xtk.3	+	6	853	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	NCOA3_uc002xtl.3_Missense_Mutation_p.R198C|NCOA3_uc002xtn.3_Missense_Mutation_p.R198C|NCOA3_uc010ght.2_Missense_Mutation_p.R198C|NCOA3_uc002xtm.3_Missense_Mutation_p.R198C|NCOA3_uc010zyc.2_5'UTR	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	198					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATTTAATTGCCGTATGTTGAT	0.378000														34			27		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495434	71495434	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:71495434C>T	uc003kbw.4	+	4	6493	c.6252C>T	c.(6250-6252)ctC>ctT	p.L2084L	MAP1B_uc010iyw.1_Silent_p.L2101L|MAP1B_uc010iyx.1_Silent_p.L1958L|MAP1B_uc010iyy.1_Silent_p.L1958L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2084						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATTTATGCCTCGTGTCCTCTT	0.493000														10			61		0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44432080	44432080	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:44432080T>C	uc003tkz.3	-	4	977	c.791A>G	c.(790-792)aAc>aGc	p.N264S	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	264	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTTGCTCAGGTTCACCTGGGG	0.597000														59			3		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694839	153694839	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:153694839G>A	uc004flm.3	+	15	3093	c.2920G>A	c.(2920-2922)Gag>Aag	p.E974K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	974	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.S973R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGACAGCGAGTGCCAGTT	0.697000														46			39		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551383	248551383	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:248551383C>T	uc001iei.1	+	0	474	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTTTTCTCCTCACCCCCA	0.567000														23			12		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113435446	113435446	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:113435446C>T	uc001tuj.3	+	3	889	c.749C>T	c.(748-750)aCc>aTc	p.T250I	OAS2_uc001tui.1_Missense_Mutation_p.T250I	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	250	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	p.R249R(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCGTCAGAACCGTACTGGAG	0.502000														12			14		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120911459	120911459	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:120911459G>A	uc003vjq.4	+	21	3290	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	948						endoplasmic reticulum		p.Q947K(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTCTACAGGGGAAGTGTGGA	0.323000														47			23		0	0	1	0	0
MIR519E	574463	broad.mit.edu	37	19	54183195	54183195	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:54183195C>T	uc021uzo.1	+	1		c.1_splice	c.e1-1		MIR520F_uc021uzp.1_5'Flank					Homo sapiens microRNA 519e (MIR519E), microRNA.																		GCGAGAAGATCTCATGCAGTC	0.383000														24			11		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166011151	166011151	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:166011151C>T	uc002ucx.3	-	10	1683	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	SCN3A_uc002ucy.3_Silent_p.G397G|SCN3A_uc002ucz.3_Silent_p.G397G|SCN3A_uc002uda.1_Silent_p.G266G|SCN3A_uc002udb.1_Silent_p.G266G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTATGTTTTCCCAGCAGCAC	0.398000														17			15		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753482	19753482	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr13:19753482G>A	uc009zzj.3	-	2	331	c.226_splice	c.e2+1	p.D76_splice		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	76					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGCACCTACCGACCACAGTGG	0.587000														18			18		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501017	21501017	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr18:21501017C>T	uc002kuq.3	+	61	8129	c.8043_splice	c.e61+1	p.S2681_splice	LAMA3_uc002kur.3_Splice_Site_p.S2625_splice|LAMA3_uc002kus.4_Splice_Site_p.S1072_splice|LAMA3_uc002kut.4_Splice_Site_p.S1016_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2681	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S2681L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGACCATTCGGTACACCTT	0.383000														10			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109342	58109342	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:58109342C>T	uc003djj.2	+	20	3814	c.3649C>T	c.(3649-3651)Ccc>Tcc	p.P1217S	FLNB_uc010hne.2_Missense_Mutation_p.P1217S|FLNB_uc003djk.2_Missense_Mutation_p.P1217S|FLNB_uc010hnf.2_Missense_Mutation_p.P1217S|FLNB_uc003djl.2_Missense_Mutation_p.P1048S|FLNB_uc003djm.2_Missense_Mutation_p.P1048S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1217	Interaction with FBLP1.				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)		GCCACACTTCCCCGCCCGGGT	0.537000														31			22		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286261	48286261	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:48286261G>A	uc010rht.2	+	0	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TAAACCCTGTGATTTACTCCT	0.408000														30			7		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831016	58831016	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:58831016C>T	uc001xdp.3	+	19	2463	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	ARID4A_uc001xdo.3_Missense_Mutation_p.P737S|ARID4A_uc001xdq.3_Missense_Mutation_p.P737S|ARID4A_uc010apg.1_Missense_Mutation_p.P415S	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	737					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGAAAATCCAAAGATTTC	0.284000														33			10		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655285	19655285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:19655285C>T	uc002nmw.4	+	7	2034	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	CILP2_uc002nmv.4_Missense_Mutation_p.S644F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	644						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCATGTTCTCCGTGGACCTC	0.726000														32			42		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141874461	141874461	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:141874461G>A	uc003yvu.3	-	4	710	c.400C>T	c.(400-402)Cta>Tta	p.L134L	PTK2_uc003yvr.3_Silent_p.L33L|PTK2_uc003yvs.3_Silent_p.L134L|PTK2_uc011ljr.2_Silent_p.L134L|PTK2_uc003yvt.3_Silent_p.L156L|PTK2_uc003yvv.3_Silent_p.L21L	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	134	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AACTGGTTTAGAAATCCTTTT	0.284000														22			53		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476832	57476832	+	Missense_Mutation	SNP	C	T	T	rs142236626		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:57476832C>T	uc009vzx.1	-	12	1878	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	DAB1_uc001cyt.1_Missense_Mutation_p.E518K|DAB1_uc001cyq.1_Missense_Mutation_p.E518K|DAB1_uc001cyr.1_Missense_Mutation_p.E434K|DAB1_uc009vzw.1_Missense_Mutation_p.E502K|DAB1_uc001cys.1_Missense_Mutation_p.E520K	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	553					cell differentiation|nervous system development			p.S519I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCTTGCTCTTCGCTTTTGCTG	0.423000														37			25		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349179	38349179	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:38349179C>T	uc010cwu.1	+	13	1617	c.1127_splice	c.e13-1	p.D376_splice	RAPGEFL1_uc010wfd.1_Splice_Site_p.D312_splice	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	582					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						ATCCCCTAGACCTGACTTTCC	0.542000														47			25		0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375769	85375769	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:85375769G>A	uc001pas.2	-	0	414	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	51					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTGCGGCCGGGAGATCCGGCC	0.726000														33			18		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176334117	176334117	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:176334117G>A	uc021yil.1	-	12	2077	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	UIMC1_uc021yim.1_Missense_Mutation_p.S637L|UIMC1_uc021yin.1_Missense_Mutation_p.S637L|UIMC1_uc003mfd.2_Missense_Mutation_p.S267L	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	637					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCTCACCTGAAGTCTTGTG	0.483000														0			8		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52415658	52415658	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:52415658G>A	uc011bef.2	+	48	7872	c.7611G>A	c.(7609-7611)atG>atA	p.M2537I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2537					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)		GTGCACAGATGATGCAGGTGA	0.562000														9			8		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:44974297C>A	uc001wvn.3	-	0	2203	c.1894G>T	c.(1894-1896)Gct>Tct	p.A632S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	632	Ala-rich.					cilium		p.A632S(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000														25			3		0.115264	0.115264	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23810949	23810949	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:23810949C>T	uc001ywh.4	+	0	496	c.20C>T	c.(19-21)cCc>cTc	p.P7L	MKRN3_uc001ywi.3_Missense_Mutation_p.P7L|MKRN3_uc010ayi.1_Missense_Mutation_p.P7L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	7						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCTGCAGCTCCCTCAGAAGCC	0.642000														12			6		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975489	16975489	+	RNA	SNP	C	G	G	rs79648786	by1000genomes	TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:16975489C>G	uc010och.2	+	8		c.1770C>G			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGTCAGCTTGCGGAATTGGTG	0.607000														33			3		0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75632325	75632325	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:75632325C>T	uc002azy.3	+	7	636	c.579C>T	c.(577-579)acC>acT	p.T193T	COMMD4_uc002azz.3_3'UTR|COMMD4_uc002baa.3_Silent_p.T134T|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	193	COMM.					cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGGCCCAGACCCTGATGAGCT	0.637000														24			5		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267789	7267789	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:7267789G>A	uc002mgd.1	-	1	328	c.219C>T	c.(217-219)ttC>ttT	p.F73F	INSR_uc002mge.1_Silent_p.F73F|INSR_uc002mgf.3_Silent_p.F73F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	73					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGGTCTCGGAAATCTTCGG	0.502000														15			17		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259984	71259984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:71259984C>T	uc001oqs.1	+	0	519	c.281C>T	c.(280-282)tCa>tTa	p.S94L		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	94	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGGTCATCCTGCTGC	0.627000														93			94		0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701333	195701333	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:195701333G>A	uc011btq.1	-	7	1160	c.531C>T	c.(529-531)aaC>aaT	p.N177N	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CCAATAGCGAGTTTGCCCCGA	0.592000														43			6		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696375	48696375	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:48696375G>A	uc003cuf.1	-	2	3903	c.3903C>T	c.(3901-3903)agC>agT	p.S1301S	CELSR3_uc003cul.3_Silent_p.S1231S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1231					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAGCTTTCGGCTGAGTCGCA	0.587000														14			13		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158263018	158263018	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:158263018G>A	uc001fru.3	+	4	1198	c.906G>A	c.(904-906)atG>atA	p.M302I	CD1C_uc021pbl.1_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	302					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			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)					ACTTTTCCATGAATTGGATTG	0.378000														71			58		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36962426	36962426	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:36962426C>T	uc003aps.2	-	2	479	c.410G>A	c.(409-411)aGt>aAt	p.S137N		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	137					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GATGCCGGCACTCAGGATGAT	0.562000														29			21		0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48139293	48139293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:48139293C>T	uc003toj.3	+	4	600	c.71C>T	c.(70-72)cCa>cTa	p.P24L	UPP1_uc003tok.3_Missense_Mutation_p.P24L|UPP1_uc003tol.3_Missense_Mutation_p.P24L|UPP1_uc011kcg.1_Missense_Mutation_p.P24L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	24					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						CTTTTAAATCCAAACATAGCA	0.413000														35			18		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454897	187454897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:187454897C>T	uc003izd.1	-	1	1017	c.999G>A	c.(997-999)tgG>tgA	p.W333*		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	333					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GAGACGGTTTCCATTTAACCC	0.478000														45			25		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461922	5461922	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:5461922C>T	uc002gci.3	-	3	2649	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP1_uc002gcg.1_Silent_p.R698R|NLRP1_uc002gch.4_Silent_p.R698R|NLRP1_uc002gck.3_Silent_p.R698R|NLRP1_uc002gcj.3_Silent_p.R698R|NLRP1_uc002gcl.3_Silent_p.R698R|NLRP1_uc010clh.3_Silent_p.R698R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	698					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			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)				GCATCAGGTTCCTCCCCTGAG	0.557000														45			34		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690140	33690141	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:33690140_33690141CC>TT	uc002hjg.4	-	1	933_934	c.686_687GG>AA	c.(685-687)agg>aAA	p.R229K	SLFN11_uc010ctr.3_Missense_Mutation_p.R229K|SLFN11_uc010ctp.3_Missense_Mutation_p.R229K|SLFN11_uc010ctq.3_Missense_Mutation_p.R229K|SLFN11_uc002hjh.4_Missense_Mutation_p.R229K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	229						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGAATTGTCCTTTTTACATA	0.391000														48			22		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185963957	185963957	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:185963957G>A	uc001grq.1	+	23	3745	c.3516G>A	c.(3514-3516)aaG>aaA	p.K1172K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1172	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCCTCCAAAGATACAGCGTG	0.403000														16			22		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51763533	51763533	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:51763533G>A	uc010ufy.2	-	28	7504	c.7279C>T	c.(7279-7281)Cct>Tct	p.P2427S	DMXL2_uc002abd.3_Missense_Mutation_p.P497S|DMXL2_uc002abf.3_Missense_Mutation_p.P2426S|DMXL2_uc010bfa.3_Missense_Mutation_p.P1790S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2426						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGCCTTCCAGGGACGAGCATT	0.413000														61			44		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844240	52844240	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:52844240C>T	uc001sak.3	-	1	753	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	235	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCTCCGAGTCCAGACGACCCC	0.552000														89			56		0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821749	129821749	+	RNA	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:129821749C>T	uc003ene.2	-	1		c.167G>A			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CTGGGCAATACAGCACGTCTA	0.597000														25			16		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112588	248112588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:248112588G>A	uc001idt.1	+	0	429	c.429G>A	c.(427-429)atG>atA	p.M143I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	143					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)			GTGTGCTGATGATAACAGGGT	0.433000														60			41		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:57143616G>A	uc003dil.3	-	4	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_uc003dik.3_Missense_Mutation_p.P143S|IL17RD_uc010hna.3_Missense_Mutation_p.P23S|IL17RD_uc011bex.1_Missense_Mutation_p.P23S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000														25			22		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765104	77765104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:77765104C>T	uc003yau.2	+	9	6334	c.5947C>T	c.(5947-5949)Cgt>Tgt	p.R1983C	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1938C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		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)			AAAATTTGCTCGTCAATACAG	0.458000										HNSCC(33;0.089)				27			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882449	228882449	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:228882449C>T	uc002vpq.2	-	6	3168	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1041K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1041K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1041						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)		GCTGCCACTTCATTGGCAAAA	0.512000														36			30		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273723	125273723	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:125273723C>T	uc011lyv.2	+	0	643	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	OR1J2_uc004bmj.2_Silent_p.L215L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATGTGTATCCTGGTATCATA	0.517000														4			18		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24664	24664	+	RNA	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrGL000241.1:24664G>A	uc011mgv.2	-	4		c.549C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TTTGACAGCCGTAAACTGCTC	0.289000														27			3		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					25			16		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7168079	7168080	+	Missense_Mutation	DNP	AA	GG	GG			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:7168079_7168080AA>GG	uc002mgd.1	-	6	1618_1619	c.1509_1510TT>CC	c.(1507-1512)tcttac>tcCCac	p.Y504H	INSR_uc002mge.1_Missense_Mutation_p.Y504H|INSR_uc002mgf.3_Missense_Mutation_p.Y504H	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	504					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCCGAATGTAAGAAAATTTAA	0.450000														11			19		0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352363	103352363	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:103352363A>T	uc001tjr.4	+	0	912	c.341A>T	c.(340-342)cAg>cTg	p.Q114L	ASCL1_uc021rcu.1_Missense_Mutation_p.Q114L	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	114					Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						AGCCTGCCGCAGCAGCAGCCG	0.667000														2			10		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117758535	117758535	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:117758535C>T	uc004eqp.2	+	31	3568	c.3505C>T	c.(3505-3507)Ccc>Tcc	p.P1169S	DOCK11_uc004eqq.2_Missense_Mutation_p.P948S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1169					blood coagulation	cytosol	GTP binding	p.P1169P(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTGTACCTCCCCTTTGTTGG	0.333000														105			67		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47385827	47385827	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:47385827G>A	uc003tnw.3	-	17	2767	c.2409C>T	c.(2407-2409)gcC>gcT	p.A803A	TNS3_uc022acn.1_Silent_p.A360A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	803						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCAGGTTTGGGGCATAGTCCA	0.597000														31			26		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060576	152060576	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:152060576A>G	uc001ezo.1	-	1	109	c.44T>C	c.(43-45)tTc>tCc	p.F15S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	15							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATATTTGTGGAATGTCTCAAT	0.463000														54			33		0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58855785	58855785	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:58855785G>C	uc010bga.2	+	9	1859	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	LIPC_uc010bfz.1_Missense_Mutation_p.K417N|LIPC_uc002afa.2_Missense_Mutation_p.K417N|LIPC_uc010bgb.1_Missense_Mutation_p.K315N|LIPC_uc010ugy.2_Missense_Mutation_p.K356N	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	417	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.K417N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCATGATCAAGTTCAAGTGGG	0.493000														49			7		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168801	42168801	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:42168801C>T	uc002xkn.1	+	12	1322	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	L3MBTL1_uc010zwh.2_Silent_p.P706P|L3MBTL1_uc002xkm.3_Silent_p.P638P|L3MBTL1_uc010ggl.3_Silent_p.P643P|L3MBTL1_uc002xkl.3_Silent_p.P638P|L3MBTL1_uc002xko.3_Silent_p.P290P|L3MBTL1_uc002xkp.3_Silent_p.P26P|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	638					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCTCACGCCCGATGTCGTGC	0.617000														24			16		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499841	66499841	+	Silent	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:66499841T>C	uc004aee.1	+	0	651	c.651T>C	c.(649-651)gcT>gcC	p.A217A	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGCGGCTGGCTGCCACCGACC	0.587000														29			4		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722348	14722348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:14722348C>T	uc003zlj.3	-	0	368	c.323G>A	c.(322-324)gGg>gAg	p.G108E		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	108					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGACTGGGTCCCAGGTGGGAA	0.493000														6			19		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874318	24874318	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:24874318C>T	uc003sxf.3	-	14	1938	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.R475R|OSBPL3_uc003sxh.3_Silent_p.R480R|OSBPL3_uc003sxi.3_Silent_p.R444R|OSBPL3_uc003sxj.1_Silent_p.R240R|OSBPL3_uc003sxk.1_Silent_p.R209R	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	511					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACGTTCTTCTCCGGGACTTCG	0.512000														36			20		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200768	23200768	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:23200768C>T	uc002dlm.1	+	2	533	c.394C>T	c.(394-396)Cca>Tca	p.P132S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	132					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTATGGCTTTCCAGAGTCCCG	0.577000														71			81		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37840880	37840880	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:37840880G>A	uc002hsj.3	-	2	445	c.402C>T	c.(400-402)ccC>ccT	p.P134P	PGAP3_uc010cvy.3_Non-coding_Transcript|PGAP3_uc010wej.2_Silent_p.P134P|PGAP3_uc002hsk.3_Intron|PGAP3_uc010cvz.3_Silent_p.P134P	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	134					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGTGGTACATGGGGGAGGAGG	0.587000														26			14		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724121	142724121	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:142724121G>C	uc003wcc.1	-	0	99	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F32F(1)|p.F32L(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TCACTAAATAGAAGAAAAAGA	0.433000														35			19		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915104	119915104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:119915104C>T	uc003vjj.1	+	0	1383	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	140					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R140H(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTACAAGGATCGCAGGCGAGA	0.602000														71			74		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143585	55143585	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:55143585C>T	uc002qgj.3	+	5	898	c.558C>T	c.(556-558)ccC>ccT	p.P186P	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.P186P|LILRB1_uc002qgk.3_Silent_p.P186P|LILRB1_uc002qgm.3_Silent_p.P186P|LILRB1_uc010erq.3_Silent_p.P186P|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	186	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P186P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGTGGGCCCCGTGAGCCCGA	0.592000										HNSCC(37;0.09)				53			43		0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123181208	123181208	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:123181208G>A	uc004eua.3	+	8	1076	c.672G>A	c.(670-672)atG>atA	p.M224I	STAG2_uc004etz.4_Missense_Mutation_p.M224I|STAG2_uc004eub.3_Missense_Mutation_p.M224I|STAG2_uc004euc.3_Missense_Mutation_p.M224I|STAG2_uc004eud.3_Missense_Mutation_p.M224I|STAG2_uc004eue.3_Missense_Mutation_p.M224I	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	224					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAATAGCTATGAAGTTGATGA	0.289000														23			13		0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89056264	89056265	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:89056264_89056265GG>AA	uc002bmq.2	-	5	1792_1793	c.1603_1604CC>TT	c.(1603-1605)cct>TTt	p.P535F	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.P524F|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	524						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)			AGGCTCAAAAGGGTGAAAGGTG	0.554000														18			15		0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327862	88327862	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:88327862G>A	uc002sso.1	-	3	615	c.221C>T	c.(220-222)tCa>tTa	p.S74L	KRCC1_uc002ssp.1_Missense_Mutation_p.S74L|KRCC1_uc021vko.1_Missense_Mutation_p.S74L	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	74										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AATATTGCATGATCTTGGGTA	0.468000														17			16		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528335	20528335	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:20528335C>T	uc001vwn.1	+	0	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAACATTCTCATTATGGTCA	0.398000														48			56		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574496	22574496	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:22574496C>T	uc002nqt.2	-	3	1663	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGGTTTCTCTCCAGTATGAAT	0.388000														26			12		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95931110	95931110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:95931110C>T	uc001kjk.3	+	3	2300	c.1666C>T	c.(1666-1668)Ctt>Ttt	p.L556F	PLCE1_uc010qnx.2_Missense_Mutation_p.L556F|PLCE1_uc001kjm.3_Missense_Mutation_p.L248F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	556	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCGACTACCTTTGCTTCTT	0.537000														5			41		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18564360	18564360	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr18:18564360A>G	uc002kte.3	-	19	3382	c.2441T>C	c.(2440-2442)tTa>tCa	p.L814S		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	814	Glu-rich.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCTTCCAATAAAGTATTTAT	0.303000														14			13		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74648947	74648947	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:74648947G>A	uc004ecg.3	-	6	1047	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ZDHHC15_uc004ech.3_Missense_Mutation_p.T181M|ZDHHC15_uc011mqo.1_Intron	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	190						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GAAGACTGTCGTAGCAATGTA	0.373000														16			12		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3030250	3030250	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:3030250G>A	uc022brz.1	+	10	1562	c.1426G>A	c.(1426-1428)Gta>Ata	p.V476I	ARSF_uc004cre.2_Missense_Mutation_p.V476I|ARSF_uc004crf.2_Missense_Mutation_p.V476I	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	476						extracellular region	arylsulfatase activity|metal ion binding	p.P475P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTGACCCCGGTATTCCAGCC	0.512000														43			40		0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747884	88747884	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:88747884G>A	uc002flj.3	-	1	383	c.315C>T	c.(313-315)ctC>ctT	p.L105L	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	105					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCTGTCTTTGAGGGGTACAA	0.677000														74			50		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285778	223285778	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:223285778G>A	uc021pjl.1	-	0	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F	TLR5_uc001hnv.2_Missense_Mutation_p.S199F|TLR5_uc001hnw.2_Missense_Mutation_p.S199F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	199					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCTAAAAAAGGAGAGCGTTTT	0.423000														27			25		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569796	47569796	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:47569796G>A	uc002pga.4	-	14	3767	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1243							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCCGGGCTGGGGTGGGGCAC	0.701000														7			8		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836145	14836145	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:14836145C>T	uc001rcd.3	-	3	579	c.442G>A	c.(442-444)Gga>Aga	p.G148R	GUCY2C_uc009zhz.2_Missense_Mutation_p.G148R	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	148					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CATGACAATCCAAAACTTCCA	0.403000														13			12		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002528	3002528	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:3002528C>T	uc022brz.1	+	5	787	c.651C>T	c.(649-651)ctC>ctT	p.L217L	ARSF_uc004cre.2_Silent_p.L217L|ARSF_uc004crf.2_Silent_p.L217L	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	217						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCCTGGCTCCTGATCTTCT	0.547000														50			28		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36270060	36270060	+	Silent	SNP	T	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:36270060T>G	uc011cow.2	-	2	676	c.183A>C	c.(181-183)gcA>gcC	p.A61A	RANBP3L_uc003jkh.3_Silent_p.A61A	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	61					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TACCTGGTTCTGCTGCTTCAT	0.383000														6			41		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241839	120241839	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:120241839C>T	uc003icw.3	-	1	285	c.226G>A	c.(226-228)Gga>Aga	p.G76R		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	76							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AGTTCAGTTCCGTCTGCTAGA	0.318000														23			14		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467911	6467911	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:6467911G>A	uc002mfe.3	-	22	2102	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P	DENND1C_uc002mfb.3_Silent_p.P220P|DENND1C_uc002mfc.3_Silent_p.P220P|DENND1C_uc002mfd.3_Silent_p.P220P|DENND1C_uc010xje.2_Silent_p.P626P	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	670						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGAGGGTTTGGGGTCCCCCC	0.567000														5			6		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072870	18072870	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:18072870G>A	uc002zmp.1	+	10	1310	c.816G>A	c.(814-816)tgG>tgA	p.W272*	SLC25A18_uc002zmq.1_Nonsense_Mutation_p.W272*	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	272						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGAAACTCTGGATTCAGGAGG	0.547000														33			16		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219557366	219557366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:219557366C>T	uc002viu.3	+	15	2255	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	STK36_uc002viv.3_Missense_Mutation_p.S659F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	659					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)		GGAGCCATTTCCTCTGCCCTG	0.572000														11			11		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457119	49457119	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:49457119T>A	uc001jgi.3	-	2	585	c.254A>T	c.(253-255)aAg>aTg	p.K85M	FRMPD2_uc001jgh.3_Missense_Mutation_p.K76M|FRMPD2_uc001jgj.3_Missense_Mutation_p.K76M	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	85	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTCAGGGGCCTTGAAAGGAGC	0.547000														3			14		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110768751	110768751	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:110768751C>T	uc009wfr.3	+	2	2556	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	KCNC4_uc001dzh.3_Silent_p.F590F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.F590F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	590					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCTGCTTCCTGCTCAGCA	0.657000														32			21		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383009	31383009	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:31383009C>T	uc002ebt.3	+	16	2131	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	ITGAX_uc002ebu.1_Silent_p.P688P	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	688					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.S687I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCTGAGTCCCCGTGCCACCT	0.617000														35			27		0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1980168	1980168	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:1980168G>A	uc002lul.4	+	11	1736	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	CSNK1G2_uc010dsu.3_Missense_Mutation_p.R357K	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	405					Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		TTCTTCAAGAGGAGAAAGAGA	0.652000														29			25		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891695	148891695	+	RNA	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:148891695C>T	uc009wkv.1	+	8		c.997C>T								Homo sapiens cDNA, FLJ17483.																		CCCCTCCAGACATCCAATCAG	0.373000														50			5		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186077644	186077644	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:186077644G>A	uc001grq.1	+	70	11133	c.10904G>A	c.(10903-10905)cGg>cAg	p.R3635Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3635	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGTGTTACGGAACAGACAA	0.418000														18			15		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4572296	4572296	+	Silent	SNP	C	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:4572296C>G	uc003zij.2	+	6	928	c.675C>G	c.(673-675)gtC>gtG	p.V225V	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	225					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TTGGACTTGTCATTGGAAAAA	0.398000														10			103		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2444150	2444150	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:2444150C>T	uc010qxl.2	-	1	126	c.117_splice	c.e1+1	p.K39_splice	TRPM5_uc001lwm.4_Splice_Site_p.K39_splice|TRPM5_uc009ydn.3_Splice_Site_p.K39_splice	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	39						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)		CTGCCCTTACCTTGCCTCGCT	0.657000														28			9		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr21:10916378G>A	uc002yip.1	-	19	1636	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.S405L|TPTE_uc002yir.1_Missense_Mutation_p.S385L|TPTE_uc010gkv.1_Missense_Mutation_p.S285L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	423	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGAGGAATCGAATAAATAAT	0.388000														60			11		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200233369	200233369	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:200233369T>G	uc002uuy.2	-	5	1476	c.659A>C	c.(658-660)cAg>cCg	p.Q220P	SATB2_uc010fsq.2_Intron|SATB2_uc002uva.2_Missense_Mutation_p.Q220P|SATB2_uc002uuz.2_Missense_Mutation_p.Q220P	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	220						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q220H(1)		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						CCCAAACTCCTGGCACTTGGT	0.313000														14			11		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114418999	114418999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:114418999C>T	uc010nqe.3	-	2	627	c.596G>A	c.(595-597)gGg>gAg	p.G199E	LRCH2_uc004epz.3_Missense_Mutation_p.G199E	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	199										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTTAACTTCCCAATTTCTTC	0.289000														18			8		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920262	43920262	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:43920262C>T	uc002owk.3	+	5	691	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	TEX101_uc010xwo.2_Silent_p.L26L	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	26						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGGCCTAGAGCTGTATTGTCA	0.502000														18			14		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416167	105416167	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:105416167G>A	uc010axc.1	-	6	5741	c.5621C>T	c.(5620-5622)cCg>cTg	p.P1874L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1774L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1874						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)			AGAAGGGAGCGGAATGCAGAG	0.662000														131			105		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357630	55357630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:55357630C>T	uc010spd.1	-	7	684	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	TESPA1_uc001sgl.3_Missense_Mutation_p.R46Q|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_Missense_Mutation_p.R46Q|TESPA1_uc001sgn.3_Missense_Mutation_p.R184Q	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	184								p.R46Q(1)|p.R184Q(1)									GGTGAAAAATCGGGCGGGTAT	0.517000														39			31		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120007788	120007788	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:120007788C>T	uc011muc.2	-	1	1117	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	288										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TTTTCCACATCCTTCTCTTTT	0.448000														348			292		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298641	107298641	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:107298641G>A	uc004bcb.1	-	0	454	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCCACATAACGATCAAATGCC	0.473000														61			3		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792842	65792842	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr11:65792842C>T	uc001ogt.3	-	0	1147	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	337					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.H336H(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCGGGGGCATCGTGAATCAGG	0.592000														25			14		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018769	23018769	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:23018769G>A	uc004daj.3	+	0	692	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	199						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTGGAGAAAGGAAAATTTCAA	0.388000														50			25		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573777	86573777	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:86573777C>T	uc022axf.1	-	0	1950	c.1950G>A	c.(1948-1950)gtG>gtA	p.V650V		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	650						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CCTTCCACATCACCAGCTGCA	0.672000														51			6		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832386	113832386	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:113832386G>A	uc002tiu.3	+	3	280	c.205G>A	c.(205-207)Gca>Aca	p.A69T	IL1F10_uc002tiv.3_Missense_Mutation_p.A69T|IL1F10_uc002tiw.3_Missense_Mutation_p.A61T	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	69						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCGCTGCCTGGCATGTGTGGA	0.607000														28			23		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4572341	4572341	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:4572341C>G	uc003zij.2	+	6	973	c.720C>G	c.(718-720)ttC>ttG	p.F240L	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	240					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGGATTTCTTCAATGCTTTGA	0.418000														9			87		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600704	179600704	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:179600704C>T	uc021vsy.1	-	46	10962	c.10737G>A	c.(10735-10737)gtG>gtA	p.V3579V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V240V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4506	Ig-like 21.						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)			TGGTTTCTATCACAGGAGTCC	0.468000														33			20		0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57016392	57016393	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr18:57016392_57016393GG>AT	uc002lhz.3	-	5	747_748	c.715_716CC>AT	c.(715-717)cct>ATt	p.P239I		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	239	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CCCTTGTGCAGGGATAATCATA	0.356000														27			22		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738847	84738847	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:84738847C>T	uc021pvc.1	+	7	1581	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	NRG3_uc010qlz.1_Silent_p.I517I|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.I518I|NRG3_uc001kcp.2_Silent_p.I297I|NRG3_uc001kcq.2_Silent_p.I168I|NRG3_uc021pvd.1_Silent_p.I297I|NRG3_uc021pve.1_Silent_p.I322I|NRG3_uc021pvf.1_Silent_p.I168I|NRG3_uc021pvg.1_Silent_p.I322I|NRG3_uc021pvh.1_Silent_p.I106I|NRG3_uc021pvi.1_Silent_p.I348I|NRG3_uc021pvk.1_Silent_p.I34I|NRG3_uc001kcr.2_Silent_p.I168I|NRG3_uc021pvl.1_Silent_p.I168I	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	518					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATCAAGGATCCCAGACCAGG	0.473000														0			9		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489714	50489714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:50489714G>A	uc001zxw.3	+	1	728	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SLC27A2_uc010bes.3_Missense_Mutation_p.E166K|SLC27A2_uc001zxx.3_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	166					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGCAGCTGTCGAAGAGATACT	0.333000														12			11		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525018	248525018	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:248525018C>T	uc001ieh.1	+	0	136	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATTTCATCCTGTTGGGACT	0.468000														37			45		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1986892	1986892	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:1986892C>T	uc001aiq.3	+	1	245	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	28	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACATCTTCATCACCAGCGTGG	0.522000														7			10		0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22016848	22016848	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:22016848T>A	uc021pny.1	+	14	2054	c.2054T>A	c.(2053-2055)cTc>cAc	p.L685H	MLLT10_uc001iqs.3_Missense_Mutation_p.L701H|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.L685H|MLLT10_uc001ira.3_Missense_Mutation_p.L142H|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	701	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CGAGGAAGTCTCTCGCCACGG	0.423000			T	"""MLL, PICALM, CDK6"""	AL									7			6		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33173345	33173345	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:33173345G>A	uc002xas.3	-	8	1022	c.822C>T	c.(820-822)ttC>ttT	p.F274F	PIGU_uc010zul.2_Silent_p.F274F|PIGU_uc002xat.3_Silent_p.F254F|PIGU_uc010gev.1_Non-coding_Transcript	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	274	May be involved in recognition of long- chain fatty acids in GPI.				C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGAAGTACCAGAAAAGACCAA	0.388000														49			27		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495237	103495237	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:103495237G>A	uc004ely.3	-	3	962	c.893C>T	c.(892-894)cCg>cTg	p.P298L		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	298	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGCCATGGGCGGCCAGGGTGG	0.751000														24			22		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569971	241569971	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:241569971G>A	uc010fzi.2	+	5	1567	c.695G>A	c.(694-696)aGg>aAg	p.R232K	GPR35_uc010fzh.2_Missense_Mutation_p.R232K|GPR35_uc021vze.1_Missense_Mutation_p.R201K|GPR35_uc002vzs.2_Missense_Mutation_p.R201K	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	201						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTGGCCCAGAGGCCACCCACC	0.657000														43			24		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75829185	75829185	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr6:75829185G>A	uc021zbv.1	-	43	7126	c.7091C>T	c.(7090-7092)tCa>tTa	p.S2364L	COL12A1_uc021zbw.1_Missense_Mutation_p.S1200L|COL12A1_uc003phs.3_Missense_Mutation_p.S2364L|COL12A1_uc003pht.3_Missense_Mutation_p.S1200L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2364	VWFA 4.				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						TTGCACAAATGAAACCTGAAG	0.443000														6			29		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54308587	54308587	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:54308587C>T	uc002qcj.4	-	4	2584	c.2364G>A	c.(2362-2364)atG>atA	p.M788I	NLRP12_uc010eqw.3_Missense_Mutation_p.M70I|NLRP12_uc002qch.4_Missense_Mutation_p.M787I|NLRP12_uc002qci.4_Missense_Mutation_p.M787I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.M788I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	787					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|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)		AAAGCAGCATCATGCCTGGGA	0.547000														41			44		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115343993	115343993	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:115343993C>T	uc001lai.4	+	10	1427	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	HABP2_uc021pyr.1_Missense_Mutation_p.P416S|HABP2_uc010qrz.1_Non-coding_Transcript	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	442	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGTCCTTTCCCTCTGGGAG	0.512000														3			20		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245826	21245826	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:21245826C>T	uc002red.3	-	17	2821	c.2693G>A	c.(2692-2694)gGg>gAg	p.G898E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTGGACCCCACTCCTAGC	0.498000														20			19		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473468	31473468	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr6:31473468G>A	uc003ntn.4	+	1	261	c.145G>A	c.(145-147)Gga>Aga	p.G49R	MICB_uc011dnm.2_Missense_Mutation_p.G17R|MICB_uc021yuq.1_Missense_Mutation_p.G17R|MICB_uc003nto.4_Missense_Mutation_p.G49R	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	49					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	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding	p.G49E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TCTCGCTGAGGGACATCTGGA	0.562000														36			25		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134884	233134884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:233134884C>T	uc001hvl.2	-	30	5805	c.5570G>A	c.(5569-5571)aGa>aAa	p.R1857K	PCNXL2_uc001hvk.1_Missense_Mutation_p.R509K|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1857						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)				GGTCCTAATTCTGTCCAAAGT	0.537000														12			6		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964938	196964938	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:196964938G>A	uc001gts.4	+	4	827	c.699G>A	c.(697-699)gtG>gtA	p.V233V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	233	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGAAGTAGTGGAATATGATT	0.363000														9			15		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866012	30866012	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:30866012G>A	uc003ahy.3	-	3	317	c.228C>T	c.(226-228)ccC>ccT	p.P76P	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Silent_p.P17P|SEC14L3_uc003aib.3_Silent_p.P17P	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	76	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCACCTCTGGGGGCTGCCAAT	0.552000														75			48		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27888056	27888056	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:27888056G>T	uc002rlk.4	+	1	1197	c.915G>T	c.(913-915)aaG>aaT	p.K305N	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	305						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTTGGAGAAGAAGATGCTAG	0.463000														52			31		1.7881e-09	1.79487e-09	1	1	0
CD163	9332	broad.mit.edu	37	12	7654044	7654044	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:7654044C>T	uc001qsz.3	-	2	276	c.148G>A	c.(148-150)Gag>Aag	p.E50K	CD163_uc001qta.3_Missense_Mutation_p.E50K|CD163_uc009zfw.2_Missense_Mutation_p.E50K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	50					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCTCAGCTCCTTGTCTGTT	0.438000														37			40		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														59			5		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10215380	10215380	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:10215380C>T	uc002gmk.1	-	31	4469	c.4379G>A	c.(4378-4380)tGg>tAg	p.W1460*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1460					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTTTGCTTCCACTCTGCAAG	0.512000														16			12		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155377	100155377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:100155377C>T	uc001dsg.3	+	6	2004	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	521					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCACCATTCCCCATTTGATGC	0.448000														26			22		0	0	1	0	0
AK308309	0	broad.mit.edu	37	4	119435115	119435115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:119435115C>T	uc010imy.1	+	1	470	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CEP170P1_uc003icb.3_5'Flank					Homo sapiens cDNA, FLJ98257.																		AGGGAGGAGGCTCAGTGGACA	0.393000														5			3		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786272	2786272	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:2786272C>T	uc009zdu.1	+	41	5298	c.4985C>T	c.(4984-4986)aCc>aTc	p.T1662I	CACNA1C_uc001qkc.2_Missense_Mutation_p.T1633I|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1633I|CACNA1C_uc001qke.2_Missense_Mutation_p.T1603I|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1622I|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1655I|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1620I|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1622I|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1662I|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1603I|CACNA1C_uc001qko.2_Missense_Mutation_p.T1634I|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1642I|CACNA1C_uc001qku.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1631I|CACNA1C_uc001qks.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1633I|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1611I|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1614I|CACNA1C_uc001qki.1_Missense_Mutation_p.T1350I|CACNA1C_uc010sea.1_Missense_Mutation_p.T305I|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1662					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATGAGGTCACCGTTGGCAAG	0.512000														8			10		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917888	144917888	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:144917888G>A	uc021ouh.1	-	10	1700	c.1398C>T	c.(1396-1398)acC>acT	p.T466T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.T466T|PDE4DIP_uc001elx.4_Silent_p.T532T|PDE4DIP_uc001emd.2_Silent_p.T466T|PDE4DIP_uc001emc.2_Silent_p.T466T|PDE4DIP_uc001emb.1_Silent_p.T629T|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	466					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCTTCAAGGGTTTTGTCTG	0.368000			T	PDGFRB	MPD									169			34		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49063829	49063829	+	Splice_Site	SNP	A	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:49063829A>C	uc003gyv.3	+	16	2204	c.2022_splice	c.e16-1	p.R674_splice	CWH43_uc011bzl.2_Splice_Site_p.R647_splice	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	674					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						atttttttaGATTTGGATCCT	0.229000														5			3		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515520	195515520	+	Silent	SNP	A	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:195515520A>T	uc021xjp.1	-	1	3087	c.2931T>A	c.(2929-2931)ctT>ctA	p.L977L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.L859L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	982	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGACAGGAAGAGGGGTGG	0.577000														12			8		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570893	71570893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:71570893G>A	uc021tkt.1	+	0	313	c.313G>A	c.(313-315)Gac>Aac	p.D105N	CHST4_uc002fan.3_Missense_Mutation_p.D105N|CHST4_uc002fao.3_Missense_Mutation_p.D105N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	105					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CTTCTTGTGCGACATGAGCGT	0.607000														34			25		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51501088	51501088	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:51501088C>T	uc002puq.1	-	4	867	c.681G>A	c.(679-681)aaG>aaA	p.K227K	KLK8_uc002pur.1_Silent_p.K182K|KLK8_uc002pus.1_Silent_p.K41K|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.K182K|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	182	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CCTCACACTTCTTCTGGGGAA	0.517000														34			25		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187611	24187611	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:24187611G>A	uc003xdy.3	+	10	1169	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	ADAM28_uc003xdx.3_Silent_p.V362V|ADAM28_uc011kzz.2_Silent_p.V129V|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.V49V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	362	Peptidase M12B.				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)		CAATATGTGTGATGGACAAAG	0.468000														24			29		0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38878539	38878539	+	Nonstop_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:38878539T>C	uc003avv.3	+	4	799	c.643T>C	c.(643-645)Tga>Cga	p.*215R		NM_006855	NP_006846	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 1, mRNA.	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					AATGCCAATCTGAGGACCTTC	0.363000														15			9		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172683359	172683359	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:172683359G>A	uc002uhh.2	-	8	968	c.879C>T	c.(877-879)gcC>gcT	p.A293A	SLC25A12_uc010fqh.2_Silent_p.A186A	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	293					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CAGCCAATGGGGCTATTCTCT	0.408000														11			15		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60030380	60030380	+	Silent	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:60030380A>G	uc002izo.3	-	26	6140	c.6063T>C	c.(6061-6063)ggT>ggC	p.G2021G		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2021					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTACAGGAGAACCAGTTGGAG	0.463000														39			26		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816651	90816651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:90816651C>T	uc003hst.3	+	0	600	c.529C>T	c.(529-531)Cga>Tga	p.R177*	MMRN1_uc010iku.3_Nonsense_Mutation_p.R143*	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	177					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		cGTGGGAAATCGAGCCCCACG	0.493000														24			16		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862610	43862610	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr21:43862610T>G	uc002zbe.3	+	11	1619	c.1535T>G	c.(1534-1536)tTt>tGt	p.F512C	UBASH3A_uc002zbf.3_Missense_Mutation_p.F474C|UBASH3A_uc010gpe.3_Missense_Mutation_p.F474C|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	512	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTGGAATCTTTGAATGGACA	0.418000														30			33		0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412968	45412968	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:45412968A>G	uc001zup.3	-	6	776	c.376T>C	c.(376-378)Tac>Cac	p.Y126H	DUOXA1_uc010uem.2_Missense_Mutation_p.Y81H|DUOXA1_uc010bec.3_Missense_Mutation_p.Y126H|DUOXA1_uc001zuq.1_Missense_Mutation_p.Y126H|DUOXA1_uc001zur.1_Missense_Mutation_p.Y81H|DUOXA1_uc010bed.1_Missense_Mutation_p.Y81H	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	126					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TCCTCGTTGTAATTGATGGTC	0.582000														75			60		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:21552450C>T	uc003cce.3	-	3	750	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000														25			18		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661487	12661487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:12661487C>T	uc002gno.2	+	11	2587	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	MYOCD_uc002gnn.2_Missense_Mutation_p.S715L|MYOCD_uc002gnp.1_Missense_Mutation_p.S667L|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	715					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCAGCAATTTCAGAGGTAACA	0.408000														19			17		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857692	9857692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:9857692C>T	uc010uym.2	-	13	4019	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1237N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D1080N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1237N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1237					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1237N(2)|p.C1236*(1)		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)	AGGCAGGCATCGCACTTGAAG	0.582000														61			46		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389181	20389181	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr14:20389181G>A	uc010tkw.2	+	0	416	c.416G>A	c.(415-417)aGg>aAg	p.R139K		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAGCCGAAGGACATGCACT	0.453000														132			50		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203728	84203728	+	Missense_Mutation	SNP	G	A	A	rs144990549		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr16:84203728G>A	uc002fhl.4	+	7	1475	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	DNAAF1_uc010vnw.2_Missense_Mutation_p.E196K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	432	Pro-rich.		E -> D (in dbSNP:rs9972733).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGTTAAAGGAGAGGACGGAGA	0.617000														32			26		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412701	19412701	+	RNA	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr13:19412701C>T	uc010tcj.1	-	0		c.33409G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTTTGAGATCATTAAGCTCT	0.338000														19			12		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Silent	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:8862495G>A	uc002wnb.3	+	31	3653	c.3650G>A	c.(3649-3651)tGa>tAa	p.*1217*	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	0					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.*1217S(4)		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						ACTCCTCTGTGAATGCTCCTG	0.522000														34			30		0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65639998	65639998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:65639998C>T	uc001ssl.2	+	12	2655	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	LEMD3_uc009zqo.2_Nonsense_Mutation_p.Q876*	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	877	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCGCTTTCCCCAGGCTCTCAC	0.373000														29			54		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130635	141130635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:141130635C>T	uc002tvj.1	-	68	11682	c.10710G>A	c.(10708-10710)tgG>tgA	p.W3570*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3570	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCACATTTCCATTTTGCTG	0.358000										TSP Lung(27;0.18)				43			30		0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118424324	118424324	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr10:118424324A>T	uc001lcr.3	-	3	464	c.409T>A	c.(409-411)Ttc>Atc	p.F137I	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	Homo sapiens chromosome 10 open reading frame 82 (C10orf82), mRNA.	137										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		ATCTCCAGGAAGTCCTTGTAG	0.552000														5			42		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713708	67713708	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:67713708A>T	uc002aqo.2	+	15	2395	c.2298A>T	c.(2296-2298)aaA>aaT	p.K766N	IQCH_uc002aqp.2_Missense_Mutation_p.K427N|IQCH_uc002aqq.2_Missense_Mutation_p.K423N|LOC100506686_uc002aqr.2_Non-coding_Transcript|LOC100506686_uc021spf.1_Non-coding_Transcript	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	766										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAACGGGAAAATCAGCGTGC	0.547000														19			15		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025416	18025417	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:18025416_18025417CC>TT	uc021trm.1	+	0	3521_3522	c.3302_3303CC>TT	c.(3301-3303)ccc>cTT	p.P1101L	MYO15A_uc021trl.1_Missense_Mutation_p.P1101L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1101	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGCCCCTGCCCAAGGGGGGTG	0.678000														61			34		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111348978	111348978	+	Splice_Site	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:111348978A>G	uc001try.4	-	7	474	c.403_splice	c.e7-1	p.V135_splice	MYL2_uc001trx.4_Splice_Site_p.V116_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	135	EF-hand 3.				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			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CATCTGGTCAACCTGCAATGA	0.612000														51			40		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979124	46979124	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:46979124C>T	uc003gxg.3	-	4	1514	c.531G>A	c.(529-531)gtG>gtA	p.V177V	GABRA4_uc021xnz.1_Silent_p.V158V|GABRA4_uc021xoa.1_Silent_p.V158V	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	177					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V177V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGGAAAATCCACCAATCTCA	0.338000														14			5		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103368612	103368612	+	Silent	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:103368612C>T	uc022ajr.1	-	6	859	c.699G>A	c.(697-699)gcG>gcA	p.A233A	RELN_uc022ajq.1_Silent_p.A233A|RELN_uc010liz.3_Silent_p.A233A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	233					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.A233A(4)		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)		CATGCATAATCGCGCCACACT	0.443000														15			21		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329072	80329072	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr4:80329072C>T	uc003hlu.3	-	0	301	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	95					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGTGGTTTCCCTCTGATTG	0.428000														43			34		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257733	24257733	+	Silent	SNP	G	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:24257733G>C	uc003xdz.2	+	10	1282	c.1062G>C	c.(1060-1062)ctG>ctC	p.L354L	ADAMDEC1_uc010lub.2_Silent_p.L275L|ADAMDEC1_uc011lab.1_Silent_p.L275L	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	354	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACATGAGCTGGGCCATGTCC	0.388000														19			9		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23191094	23191095	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:23191094_23191095GG>TA	uc003xdh.1	-	4	1124_1125	c.785_786CC>TA	c.(784-786)tcc>tTA	p.S262L	LOC100507156_uc003xdj.3_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	262	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGCAGTCCATGGAGAATGGCCA	0.604000														31			15		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051353	147051353	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:147051353C>T	uc010jgo.1	-	0	165	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R6Q|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Missense_Mutation_p.R6Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	6						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTATTTCGCCCTTTCTT	0.458000														3			19		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34763552	34763552	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:34763552C>T	uc002xfb.3	+	2	428	c.257C>T	c.(256-258)tCg>tTg	p.S86L	EPB41L1_uc002xeu.3_Missense_Mutation_p.S24L|EPB41L1_uc010zvo.1_Missense_Mutation_p.S86L|EPB41L1_uc002xev.3_Missense_Mutation_p.S86L|EPB41L1_uc002xew.3_Missense_Mutation_p.S24L|EPB41L1_uc002xex.3_Missense_Mutation_p.S55L|EPB41L1_uc002xey.3_Missense_Mutation_p.S86L|EPB41L1_uc002xez.3_Missense_Mutation_p.S24L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	86					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCCAGAAATCGCCCCAGAAG	0.567000														24			17		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142389898	142389898	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr3:142389898G>A	uc010huv.3	+	3	457	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PLS1_uc003euz.3_Missense_Mutation_p.E100K|PLS1_uc003eva.3_Missense_Mutation_p.E100K	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	100						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TAACAAGAGGGAAGGGATTAC	0.343000														50			36		0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121019091	121019091	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr8:121019091C>T	uc003yow.4	+	6	1160	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	DEPTOR_uc011lid.2_Missense_Mutation_p.P224S	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	325					intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TCCCGGGGCTCCGTATGCAAG	0.507000														16			41		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170031891	170031891	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:170031891G>A	uc002ues.3	-	54	10793	c.10580C>T	c.(10579-10581)cCt>cTt	p.P3527L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3527	LDL-receptor class A 26.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACCAGATAGGAATGCACCT	0.498000														23			9		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682606	47682606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr6:47682606G>A	uc003oyz.1	+	6	1796	c.1796G>A	c.(1795-1797)gGc>gAc	p.G599D	GPR115_uc003oza.1_Missense_Mutation_p.G542D|GPR115_uc003ozb.1_Missense_Mutation_p.G542D|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	542					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCAGAGAAAGGCTACATGAGA	0.478000														61			48		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24426248	24426248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:24426248C>T	uc001bin.4	-	5	741	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	MYOM3_uc001bio.3_Missense_Mutation_p.R193Q|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	193	Ig-like C2-type 1.									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)		GGGATCAATCCGTGTGTCATT	0.572000														18			28		0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471947	39471947	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:39471947C>T	uc002hwj.3	-	1	1	c.-44_splice	c.e1-1			NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.							intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCCGGAGTTCCCCACGACTG	0.587000														12			15		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457210	45457210	+	RNA	SNP	C	T	T			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:45457210C>T	uc001rol.3	-	0		c.1985G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAGGTGCATCCTTTCTTATAG	0.408000														5			6		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314172	48314172	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr7:48314172G>A	uc003toq.2	+	16	4933	c.4909G>A	c.(4909-4911)Gat>Aat	p.D1637N	ABCA13_uc010kyr.2_Missense_Mutation_p.D1140N|ABCA13_uc022acp.1_Missense_Mutation_p.D136N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1637					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTGATAAGGGATGTGTTCAA	0.388000														48			23		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423117	26423117	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr22:26423117G>A	uc003abz.1	+	42	7427	c.7177G>A	c.(7177-7179)Gat>Aat	p.D2393N	MYO18B_uc003aca.1_Missense_Mutation_p.D2274N|MYO18B_uc010guy.1_Missense_Mutation_p.D2275N|MYO18B_uc010guz.1_Missense_Mutation_p.D2273N|MYO18B_uc011aka.1_Missense_Mutation_p.D1547N|MYO18B_uc011akb.1_Missense_Mutation_p.D1906N|MYO18B_uc010gva.1_Missense_Mutation_p.D376N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2393						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTGTGGACGATGCGGGCTG	0.597000														36			47		0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73118628	73118628	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr2:73118628T>C	uc002sik.2	+	2	798	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	250					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						AAAGGACGAGTTCAAGTCTGG	0.512000														21			17		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53577633	53577633	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chrX:53577633T>C	uc004dsp.3	-	65	9884	c.9482A>G	c.(9481-9483)cAt>cGt	p.H3161R	HUWE1_uc004dsn.3_Missense_Mutation_p.H1969R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3161					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACCTGTTATGGCTGCTGCT	0.498000														10			11		0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58855790	58855790	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:58855790A>G	uc010bga.2	+	9	1864	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	LIPC_uc010bfz.1_Missense_Mutation_p.K419R|LIPC_uc002afa.2_Missense_Mutation_p.K419R|LIPC_uc010bgb.1_Missense_Mutation_p.K317R|LIPC_uc010ugy.2_Missense_Mutation_p.K358R	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	419	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATCAAGTTCAAGTGGGAAAAC	0.502000														50			7		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783893	10783893	+	Missense_Mutation	SNP	G	A	A	rs140174760	byFrequency	TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr12:10783893G>A	uc001qys.2	-	4	723	c.202C>T	c.(202-204)Cct>Tct	p.P68S		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	68						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTAGGTGGAGGAACAGGGGCA	0.527000										HNSCC(73;0.22)				32			22		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774538	12774538	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:12774538G>A	uc002mub.2	-	4	818	c.742C>T	c.(742-744)Ccg>Tcg	p.P248S	MAN2B1_uc010dyv.1_Missense_Mutation_p.P248S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	248					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCGCGGTCGGGGGCTTCAGG	0.607000														9			11		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168274382	168274383	+	Silent	DNP	CC	TA	TA			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:168274382_168274383CC>TA	uc001gfl.3	+	5	915_916	c.864_865CC>TA	c.(862-867)caccgg>caTAgg	p.288_289HR>HR	TBX19_uc001gfj.4_Intron|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	288					anatomical structure morphogenesis	nucleus	DNA binding	p.R289Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCGAGGACACCGGCAGGCTCC	0.589000														41			39		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	-	-	rs71929261		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr1:240255569_240255571delGGC	uc010pye.2	+	0	385_387	c.160_162delGGC	c.(160-162)ggcdel	p.G59del	FMN2_uc010pyd.2_In_Frame_Del_p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	59					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	p.G197delG(1)		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)			GGGGGGAgggggcggcggcggcg	0.665													---	6	---	---	3	---					
TNPO1	3842	broad.mit.edu	37	5	72157710	72157726	+	Frame_Shift_Del	DEL	TGTTGGATTCTGAAGAT	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:72157710_72157726delTGTTGGATTCTGAAGAT	uc003kck.4	+	4	578_594	c.431_447delTGTTGGATTCTGAAGAT	c.(430-447)ctgttggattctgaagatfs	p.L144fs	TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Frame_Shift_Del_p.L94fs|TNPO1_uc003kci.4_Frame_Shift_Del_p.L136fs|TNPO1_uc003kcg.4_Frame_Shift_Del_p.L136fs	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	144					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTGTAGCCTGTTGGATTCTGAAGATTATAATACCT	0.359													---	4	---	---	8	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	-	-	rs3045983		TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					---	4	---	---	6	---					
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr6:114181210delA	uc003pvy.4	+	1	849	c.454delA	c.(454-456)aaafs	p.K152fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	152	Calmodulin-binding (PSD).				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612													---	5	---	---	4	---					
CASC4	113201	broad.mit.edu	37	15	44624241	44624241	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr15:44624241delA	uc001ztp.3	+	3	860	c.541delA	c.(541-543)aaafs	p.K181fs	CASC4_uc001ztq.3_Frame_Shift_Del_p.K181fs|CASC4_uc010bdu.2_Intron|CASC4_uc001zto.2_Frame_Shift_Del_p.K181fs	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	181						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AGAAAATATTAAAAAGTTAGC	0.259													---	15	---	---	21	---					
MYO15A	51168	broad.mit.edu	37	17	18025395	18025396	+	Frame_Shift_Ins	INS	-	CAGGGCCC	CAGGGCCC			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr17:18025395_18025396insCAGGGCCC	uc021trm.1	+	0	3500_3501	c.3281_3282insCAGGGCCC	c.(3280-3282)atcfs	p.I1094fs	MYO15A_uc021trl.1_Frame_Shift_Ins_p.I1094fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1094	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTGGCGCCCATCAGGGCCCCAG	0.673													---	80	---	---	35	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													---	166	---	---	7	---					
MLL2	8085	broad.mit.edu	37	19	36224124	36224124	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr19:36224124delC	uc021usv.1	+	27	6674	c.6674delC	c.(6673-6675)tccfs	p.S2225fs	MLL2_uc021usu.1_Frame_Shift_Del_p.S1039fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	789	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCACCATTTCCCCCACGGCT	0.672			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	4	---	---	2	---					
MCM8	84515	broad.mit.edu	37	20	5935274	5935277	+	Frame_Shift_Del	DEL	TTGA	-	-			TCGA-FS-A4FB-06A-11D-A25O-08	TCGA-FS-A4FB-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0E5B617A-AEB6-4E7F-B474-DEE19C4F4FD8	E6D7A41E-BB8E-4CB7-A7A6-F0519E0B3BBB	g.chr20:5935274_5935277delTTGA	uc002wmk.3	+	3	651_654	c.274_277delTTGA	c.(274-279)ttgattfs	p.L92fs	MCM8_uc002wmi.3_Frame_Shift_Del_p.L92fs|MCM8_uc002wmj.3_Frame_Shift_Del_p.L92fs|MCM8_uc002wml.3_Frame_Shift_Del_p.L92fs|MCM8_uc010gbp.3_Frame_Shift_Del_p.L92fs	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	92					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TAGCTCTCCTTTGATTGAGAAGAT	0.363													---	23	---	---	7	---