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
ITGA2B	3674	broad.mit.edu	37	17	42462331	42462331	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr17:42462331A>G	uc002igt.1	-	6	816	c.784T>C	c.(784-786)Ttc>Ctc	p.F262L		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	262					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.Y261*(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TAGCCGTCGAAGTACTCTGGG	0.612000														113			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228407	140228407	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140228407C>T	uc003lhu.2	+	0	1051	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.I109I	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTAGACAGGC	0.542000														175			4		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089128	1089128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:1089128G>A	uc003jbu.3	-	3	524	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	153					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GATGAGGAAGGACTCCAGGAC	0.642000														95			5		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215656	130215656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:130215656C>T	uc004evz.3	+	1	362	c.17C>T	c.(16-18)cCt>cTt	p.P6L	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCATTCCTTTTCTGAAG	0.527000														44			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182156	140182156	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140182156C>T	uc003lhf.2	+	0	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S458S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	472	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGCAGTCCGAGTACACGG	0.667000														128			5		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039597	36039597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:36039597G>A	uc003jjz.2	-	4	1189	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	UGT3A2_uc011cos.2_Missense_Mutation_p.P319S|UGT3A2_uc011cot.2_Missense_Mutation_p.P51S	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	353						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACTCTGAGGAAGCCAGTCC	0.537000														43			3		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881385	26881385	+	Missense_Mutation	SNP	C	T	T	rs143922310		TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:26881385C>T	uc003jgs.1	-	11	2399	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	CDH9_uc011cnv.1_Missense_Mutation_p.D337N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	744					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D744N(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCTATGGAATCATTCCCTTCA	0.423000														79			5		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33572653	33572653	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:33572653A>G	uc021qfs.1	+	3	2802	c.2678A>G	c.(2677-2679)tAt>tGt	p.Y893C	C11orf41_uc001mun.1_Missense_Mutation_p.Y899C	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	893						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						AAGTTGGTGTATTTGCCTGCT	0.453000														108			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264024	140264024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140264024C>T	uc003lif.2	+	0	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S724L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S724L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	732					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGTGCTCGGCACCGCCC	0.657000														120			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286076	152286076	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:152286076G>A	uc001ezu.1	-	2	1322	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	429	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTTTTCTGAATGTCCCTC	0.597000									Ichthyosis					265			7		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135269644	135269644	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr7:135269644C>T	uc003vsw.3	+	7	1138	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	369					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACAACGTTTTCCTGTTCCTCA	0.393000														30			3		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482035	228482035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:228482035C>T	uc009xez.1	+	41	11358	c.11314C>T	c.(11314-11316)Cgt>Tgt	p.R3772C	OBSCN_uc001hsn.3_Missense_Mutation_p.R3772C|OBSCN_uc001hsq.1_Missense_Mutation_p.R1028C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3772	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.627000														92			4		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918881	12918881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:12918881C>T	uc001aum.1	+	1	104	c.17C>T	c.(16-18)cCa>cTa	p.P6L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	6										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCAGGCCCCACCGAGACTA	0.547000														82			4		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873324	55873324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:55873324G>A	uc010riy.2	+	0	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTCCTTGGGAAGAGATCAA	0.363000										HNSCC(53;0.14)				61			5		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715946	52715946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:52715946C>T	uc002pyp.3	+	4	806	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	PPP2R1A_uc010ydk.2_Missense_Mutation_p.R116W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R211W|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	171	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R171fs*7(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CAGGTACTTCCGGAACCTGTG	0.612000			Mis		clear cell ovarian carcinoma									32			3		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920399	134920399	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr3:134920399G>A	uc003eqt.3	+	11	2589	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	EPHB1_uc003equ.3_Missense_Mutation_p.M299I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	738	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCTGAGATGAATTATGTGC	0.527000														147			6		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761829	160761829	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:160761829G>A	uc003lys.1	-	7	980	c.762C>T	c.(760-762)atC>atT	p.I254I	GABRB2_uc011deh.1_Silent_p.I93I|GABRB2_uc003lyr.1_Silent_p.I254I|GABRB2_uc003lyt.1_Silent_p.I254I|GABRB2_uc021yhg.1_Silent_p.I191I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	254					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGTAATCAGGATGGAAGGCA	0.428000														34			3		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149924963	149924963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:149924963C>T	uc003lsk.4	+	10	2562	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L	NDST1_uc011dcj.2_Missense_Mutation_p.P687L	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	687	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGTGGCGCCCCGGCGGGCA	0.592000														199			7		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708053	167708053	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr6:167708053C>T	uc003qvq.3	+	1	311	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	UNC93A_uc003qvr.3_Missense_Mutation_p.L46F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	46						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCTCAGCACCCTCTATGGAGG	0.612000														114			5		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171517	124171517	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr12:124171517C>T	uc001ufp.3	+	5	827	c.699C>T	c.(697-699)ccC>ccT	p.P233P	TCTN2_uc009zya.3_Silent_p.P232P	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	233					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATTGGTTTCCCTTTCTGTGTG	0.562000														189			5		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769018	247769018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:247769018C>T	uc010pyz.2	+	0	131	c.131C>T	c.(130-132)aCc>aTc	p.T44I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAAACTTCACCATAATCATC	0.448000														122			6		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172425560	172425560	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:172425560G>A	uc001gik.3	+	3	402	c.204G>A	c.(202-204)agG>agA	p.R68R		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	68										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTCAGGCCAGGAGGAACCAGT	0.522000														85			4		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246928	19246928	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:19246928G>A	uc001mpm.3	-	11	2783	c.2261C>T	c.(2260-2262)cCt>cTt	p.P754L	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P754L	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	754					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGACCCAGGGCTGGCAGA	0.527000														57			4		0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77558147	77558147	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:77558147G>A	uc001dhk.3	-	10	1145	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	PIGK_uc010orj.2_Missense_Mutation_p.P291L|PIGK_uc009wbx.3_Missense_Mutation_p.P273L	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	367					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AAAGCCCCCAGGAGGATGCCA	0.328000														41			3		0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49691295	49691295	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr12:49691295C>T	uc001rtu.3	+	5	1227	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	384	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGCTCCTCAACGTCAAGATGG	0.692000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			3		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11190632	11190632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:11190632G>A	uc001asd.3	-	38	5688	c.5567C>T	c.(5566-5568)aCc>aTc	p.T1856I	MTOR_uc001asc.3_Missense_Mutation_p.T61I	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1856	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCTGTTCTCGGTGCTCTCGGC	0.622000														49			4		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415306	17415306	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:17415306C>T	uc001mnc.3	-	38	4672	c.4546_splice	c.e38-1	p.E1516_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1516	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGATGTTTTCCTGCCAAGTG	0.617000														102			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221278	140221278	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140221278G>A	uc003lhs.2	+	0	372	c.372G>A	c.(370-372)aaG>aaA	p.K124K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.K124K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	139	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGAAGGATGTTAATG	0.577000														138			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754623	140754623	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140754623C>A	uc003ljy.2	+	0	973	c.973C>A	c.(973-975)Cca>Aca	p.P325T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P325T	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	328	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGATGGGCCAGGTCTTCG	0.413000														121			4		0.150653	0.150653	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95356735	95356735	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:95356735C>A	uc001dqv.4	+	12	1639	c.1532C>A	c.(1531-1533)gCa>gAa	p.A511E	SLC44A3_uc001dqx.4_Missense_Mutation_p.A510E|SLC44A3_uc010otq.2_Missense_Mutation_p.A443E|SLC44A3_uc010otr.2_Missense_Mutation_p.A475E|SLC44A3_uc001dqw.4_Missense_Mutation_p.A463E|SLC44A3_uc010ots.2_Missense_Mutation_p.A431E|SLC44A3_uc009wds.3_Missense_Mutation_p.A414E|SLC44A3_uc010ott.2_Missense_Mutation_p.A430E|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	511						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGTACATCAGCAAAAGATGCA	0.303000														44			3		0.115264	0.116761	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														107			4		0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128415721	128415721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr7:128415721C>T	uc003vnt.4	-	0	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	42					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AAGACAGTGCCCATGAAAGCT	0.527000														68			9		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11312924	11312924	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:11312924T>A	uc004cus.3	+	1	84	c.16T>A	c.(16-18)Tta>Ata	p.L6I	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.L6I|AMELX_uc004cuu.3_Missense_Mutation_p.L6I	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	6			ILFA -> T (in AIH1).		cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACCTGGATTTTATTTGCCTG	0.403000														45			4		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188858	11188858	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr8:11188858C>T	uc003wtp.1	+	0	364	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	81	DUF6 1.					integral to membrane											TCTTCCACCTCCCTATTGCCC	0.617000														214			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459286	56459286	+	Silent	SNP	A	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:56459286A>G	uc002qmh.3	+	0	89	c.18A>G	c.(16-18)ccA>ccG	p.P6P	NLRP8_uc010etg.3_Silent_p.P6P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	6						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACGTGAATCCACCCTCTGACA	0.502000														81			5		0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019316	55019316	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:55019316G>A	uc002qgc.3	+	2	403	c.281G>A	c.(280-282)gGa>gAa	p.G94E	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.G94E|LAIR2_uc010erl.3_Intron	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	94	Ig-like C2-type.					extracellular region	receptor activity	p.E93E(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GTAAGTGAAGGAAATGCCGGG	0.493000														64			4		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724518	39724518	+	Silent	SNP	G	A	A	rs145501803	byFrequency	TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr17:39724518G>A	uc002hxe.4	-	5	1356	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	430	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.E429Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCTGGCACTCGATCTCTTGCC	0.542000														42			3		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248759	20248759	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr14:20248759C>T	uc010tku.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGATAATTTCCTTTGGTGGA	0.448000														244			5		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	C	C	rs77768218		TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr2:96521777T>C	uc002suz.1	-	30	2790	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R						SubName: Full=Uncharacterized protein;									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000														14			3		0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49951211	49951211	+	Silent	SNP	T	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr13:49951211T>G	uc001vcw.3	-	2	666	c.168A>C	c.(166-168)acA>acC	p.T56T	CAB39L_uc001vcx.3_Silent_p.T56T|CAB39L_uc010adf.3_Silent_p.T53T	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	56					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTTCTCGTTTGTACCACACA	0.438000														59			4		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126724987	126724987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr3:126724987G>A	uc003ejg.3	+	6	1963	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	655					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGTCTGTGGACTTCGTCTT	0.607000														61			4		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136990	40136990	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:40136990C>T	uc021qgf.1	-	0	853	c.853G>A	c.(853-855)Gac>Aac	p.D285N	LRRC4C_uc001mxc.1_Missense_Mutation_p.D281N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D281N|LRRC4C_uc001mxa.1_Missense_Mutation_p.D285N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D281N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	285					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAAGAGGTCATGAGGCAGT	0.443000														78			5		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276849	71276849	+	Silent	SNP	G	A	A	rs36179995		TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:71276849G>A	uc001oqt.1	+	0	241	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	72	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGACTGTGGCT	0.677000														186			9		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519394	43519394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:43519394G>A	uc002ovm.1	-	3	945	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Nonsense_Mutation_p.Q158*|PSG11_uc002ovo.1_Nonsense_Mutation_p.Q158*	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	280	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCTGATAGCTGAAACTTCCCA	0.463000														119			6		0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														34			5		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843136	7843136	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr12:7843136G>A	uc001qte.3	-	1	469	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	145					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AACAGAGCCAGTTCCAGCTCT	0.547000														46			3		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														19			4		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383808	108383808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:108383808G>A	uc001pkk.3	-	5	2537	c.2426C>T	c.(2425-2427)tCc>tTc	p.S809F	EXPH5_uc010rvz.2_Missense_Mutation_p.S653F|EXPH5_uc010rvy.2_Missense_Mutation_p.S621F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	809					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAAGGAAGGGAAGCTGTTGA	0.378000														94			4		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36103547	36103547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:36103547G>A	uc004ddk.1	+	4	719	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	178						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CATTTGAGTGGAAAAATGCCA	0.378000														24			3		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243169	43243169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:43243169G>A	uc002oue.3	-	1	269	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	46	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V45V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTCCCCTTGGAAACTTTGGT	0.463000														146			4		0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41252512	41252512	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr22:41252512G>A	uc003aze.3	-	0	176	c.33C>T	c.(31-33)gcC>gcT	p.A11A	XPNPEP3_uc011aox.2_5'Flank|XPNPEP3_uc003azh.3_5'Flank|XPNPEP3_uc003azi.3_5'Flank|ST13_uc011aow.2_Silent_p.A11A|XPNPEP3_uc003azf.2_5'Flank|XPNPEP3_uc003azg.2_5'Flank	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	11							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTTCACAAAGGCCCGAAGCT	0.642000														53			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90001236	90001236	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:90001236C>T	uc003kju.3	+	36	8502	c.8406C>T	c.(8404-8406)atC>atT	p.I2802I	GPR98_uc003kjt.3_Silent_p.I508I|GPR98_uc003kjv.3_Silent_p.I402I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2802					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCCGGAATCGCCCTGCTTG	0.433000														58			3		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077883	19077883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr11:19077883G>A	uc001mph.3	-	1	155	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	MRGPRX2_uc021qer.1_Missense_Mutation_p.L23F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	23					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAAAGCAGAAGAAGGGCTTGG	0.552000														236			6		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110679733	110679733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:110679733C>T	uc003kpf.3	+	1	408	c.173C>T	c.(172-174)tCc>tTc	p.S58F	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	58	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGTGCTACATCCATTGTGTAC	0.363000														111			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830227	13830227	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:13830227G>A	uc003jfd.2	-	36	6199	c.6157C>T	c.(6157-6159)Ctg>Ttg	p.L2053L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2053	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACATGTCAGAATAATGGAA	0.408000									Kartagener syndrome					29			3		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	871667	871667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:871667G>A	uc003jbq.3	-	12	1563	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	BRD9_uc003jbl.3_Missense_Mutation_p.P350S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.P413S|BRD9_uc003jbo.3_Missense_Mutation_p.P370S|BRD9_uc003jbp.3_Missense_Mutation_p.P127S	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	466							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGCTTCATGGGAACATTTCTT	0.398000														68			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995349	140995349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:140995349C>T	uc004fbt.3	+	3	2483	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S379F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	720							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGGACTCCCTCTCTCCT	0.537000										HNSCC(15;0.026)				69			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221470	140221470	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:140221470G>A	uc003lhs.2	+	0	564	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.E188E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	203	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGATGAGAATAAACTGG	0.483000														54			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995773	140995773	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:140995773C>T	uc004fbt.3	+	3	2907	c.2583C>T	c.(2581-2583)tcC>tcT	p.S861S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S520S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	861							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCCTCCACTTCATTGA	0.512000										HNSCC(15;0.026)				69			6		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr22:18846006A>G	uc002zoe.3	+	4		c.2368A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCGCAGGCCGACACTCACTGA	0.617000														51			4		0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533879	156533879	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr5:156533879G>A	uc003lwk.2	-	1	407	c.153C>T	c.(151-153)gtC>gtT	p.V51V	HAVCR2_uc003lwl.3_Silent_p.V51V	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	51	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCAGCAGACGGGCACGA	0.552000														110			4		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095438	143095438	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr7:143095438G>A	uc003wcz.3	-	6	1527	c.1440C>T	c.(1438-1440)acC>acT	p.T480T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	480	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGCTCATAGGTCAGGTTCG	0.612000														39			4		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042124	75042125	+	Silent	DNP	CC	TT	TT			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr15:75042124_75042125CC>TT	uc002ayr.1	+	1	109_110	c.45_46CC>TT	c.(43-48)ctcctg>ctTTtg	p.15_16LL>LL		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	15					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGAGCTTCTCCTGGCCTCTGC	0.579000														202			4		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026176	197026176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:197026176G>A	uc001gtt.1	-	6	1182	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	380	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATTTTCCACGATTACAAGTT	0.358000														43			3		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374370	31374370	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr20:31374370C>T	uc002wyc.3	+	4	690	c.369C>T	c.(367-369)tcC>tcT	p.S123S	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Silent_p.S123S|DNMT3B_uc002wye.3_Silent_p.S123S|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.S135S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	123	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.R122C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCACGTTCCACCCGAGGCC	0.632000														52			4		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108647691	108647691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:108647691C>T	uc022cch.1	-	8	2076	c.1991G>A	c.(1990-1992)aGa>aAa	p.R664K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.R664K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	664	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.H663fs*9(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AACAAACTCTCTGTGGTGTAA	0.373000														42			3		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179814	166179814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr2:166179814G>A	uc002udc.3	+	11	2110	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	SCN2A_uc002udd.3_Missense_Mutation_p.R607Q|SCN2A_uc002ude.3_Missense_Mutation_p.R607Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	607					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATGACAGCCGAAGAGACTCT	0.572000														30			3		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54723043	54723043	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:54723043A>G	uc010erh.1	-	8	1556	c.1432T>C	c.(1432-1434)Ttc>Ctc	p.F478L	LILRB3_uc002qee.1_Missense_Mutation_p.F461L|LILRB3_uc002qef.1_Missense_Mutation_p.F461L|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.F461L|LILRB3_uc002qeh.1_Missense_Mutation_p.F461L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.F461L|LILRB3_uc002qek.1_Missense_Mutation_p.F461L|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.F461L|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.F461L|LILRB3_uc002qep.1_Missense_Mutation_p.F461L|LILRB3_uc002qeq.1_Missense_Mutation_p.F461L	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	461					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaggaagaggaggagg	0.597000														25			6		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049372	70049372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr12:70049372C>T	uc001svg.3	-	9	1549	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.R228K|BEST3_uc010stm.2_Missense_Mutation_p.R335K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	441						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGGGGGTTTCTTGAGGGCAC	0.587000														54			25		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838739	100838739	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr6:100838739T>A	uc003pqj.4	-	10	2266	c.1799A>T	c.(1798-1800)aAa>aTa	p.K600I	SIM1_uc021zdg.1_Missense_Mutation_p.K600I|SIM1_uc010kcu.3_Missense_Mutation_p.K600I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	600	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGAGTGTTTTTTCCCAGCCCC	0.473000														54			3		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55972013	55972013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr4:55972013G>A	uc003has.3	-	11	1933	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	KDR_uc003hat.1_Missense_Mutation_p.S544F|KDR_uc011bzx.2_Missense_Mutation_p.S544F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	544	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACGTGGAAGGAGATCACCCT	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				216			5		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762624	130762624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr6:130762624G>A	uc003qcb.3	+	1	3435	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	TMEM200A_uc003qca.3_Missense_Mutation_p.E353K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E353K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E353K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E353K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	353						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTCCATTGGGGAGTCGTTGTC	0.517000														38			3		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166682	113166682	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr9:113166682G>A	uc010mtz.3	-	38	9928	c.9591C>T	c.(9589-9591)ttC>ttT	p.F3197F	SVEP1_uc010mty.3_Silent_p.F1123F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3197	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTCACACTGAAATCGTCCC	0.413000														140			4		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46863562	46863562	+	Silent	SNP	C	T	T			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr17:46863562C>T	uc021tzm.1	-	11	1760	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	TTLL6_uc002iob.3_Silent_p.Q268Q|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.Q328Q|TTLL6_uc002iod.3_Silent_p.Q422Q	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	527						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTCTTTCTGCTGTTGTTTCT	0.552000														391			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281092	152281092	+	Silent	SNP	G	A	A			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr1:152281092G>A	uc001ezu.1	-	2	6306	c.6270C>T	c.(6268-6270)ttC>ttT	p.F2090F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2090	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGTAGAGGAAAGACCCTG	0.562000									Ichthyosis					207			6		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51052012	51052012	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr19:51052012delC	uc002pss.3	-	1	221	c.84delG	c.(82-84)tggfs	p.W28fs		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	28						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGAGAAGAGCCAGAGGAAGA	0.736													---	4	---	---	2	---					
MN1	4330	broad.mit.edu	37	22	28194934	28194936	+	In_Frame_Del	DEL	TGC	-	-	rs45480998		TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chr22:28194934_28194936delTGC	uc003adj.3	-	0	2551_2553	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	532	Poly-Gln.						binding	p.Q532Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.650			T	ETV6	"""AML, meningioma"""								---	6	---	---	3	---					
MAGED1	9500	broad.mit.edu	37	X	51638563	51638563	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51H-06A-12D-A25O-08	TCGA-D3-A51H-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FE89385C-90CE-4455-8360-FC2EA2968F32	CC7FB08C-E2DA-4C2F-8188-53657B8D484E	g.chrX:51638563delA	uc004dpn.3	+	3	818	c.628delA	c.(628-630)aaafs	p.K210fs	MAGED1_uc004dpm.3_Frame_Shift_Del_p.K154fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.K154fs|MAGED1_uc011mnx.1_Intron	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	154					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGCCACTACTAAAGTGGGCCC	0.502										Multiple Myeloma(10;0.10)			---	4	---	---	2	---					
