Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEC	7006	broad.mit.edu	37	4	48158749	48158749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr4:48158749C>T	ENST00000381501.3	-	9	897	c.740G>A	c.(739-741)tGg>tAg	p.W247*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	247	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCTGCAATACCATCTGAACAG	0.323000													26	37					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082367	12082367	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:12082367A>T	ENST00000235332.4	+	3	499	c.330A>T	c.(328-330)agA>agT	p.R110S	MIIP_ENST00000436478.2_Missense_Mutation_p.R110S|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	110										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCGACCGAGACCCCACTCAG	0.677000													15	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426877	179426877	+	Silent	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr2:179426877C>A	ENST00000589042.1	-	326	84206	c.83982G>T	c.(83980-83982)gtG>gtT	p.V27994V	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V25426V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V19054V|TTN_ENST00000460472.2_Silent_p.V18929V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V19121V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.V26353V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26353	Fibronectin type-III 104.						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)			TTCTCCAGTTCACAGTAGCTT	0.378000													12	14					3.07112e-06	3.19908e-06	1	1	0
ELF3	1999	broad.mit.edu	37	1	201984390	201984390	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:201984390A>G	ENST00000359651.3	+	8	4247	c.1055A>G	c.(1054-1056)tAc>tGc	p.Y352C	ELF3_ENST00000367284.5_Missense_Mutation_p.Y352C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.Y352C			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	352					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CGACTCGTCTACAAGTTTGGC	0.547000													43	26					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	68					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49437650	49437650	+	Splice_Site	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr12:49437650C>T	ENST00000301067.7	-	22	5319		c.e22+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGAGACCCACCTGCAAGTAA	0.557000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	44					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535053	33535053	+	Silent	SNP	T	T	C	rs138703073		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr5:33535053T>C	ENST00000504830.1	-	23	4826	c.4491A>G	c.(4489-4491)caA>caG	p.Q1497Q	ADAMTS12_ENST00000352040.3_Silent_p.Q1412Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1497	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGGCACACATTGGACAGTCC	0.488000										HNSCC(64;0.19)			23	42					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133848156	133848156	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:133848156A>G	ENST00000285928.2	+	7	872	c.803A>G	c.(802-804)aAc>aGc	p.N268S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	268							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TAGAGCAATAACCAGATTGAG	0.398000													3	62					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123345049	123345049	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr12:123345049G>A	ENST00000253083.4	+	27	2764	c.2639G>A	c.(2638-2640)gGc>gAc	p.G880D		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	880	I/LWEQ.|Important for actin binding.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AAGGCTGTGGGCTGGGGAGCC	0.652000											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	44					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425437	27425437	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr17:27425437C>T	ENST00000527372.1	-	24	3987	c.3807G>A	c.(3805-3807)aaG>aaA	p.K1269K	MYO18A_ENST00000533112.1_Silent_p.K1269K|MYO18A_ENST00000354329.4_Silent_p.K1269K|MYO18A_ENST00000531253.1_Silent_p.K1269K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1269					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCTTCTCGAGCTTGCTCCGCA	0.637000													13	30					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318890	71318890	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:71318890C>T	ENST00000338099.5	-	3	1270	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	CMTR2_ENST00000434935.2_Missense_Mutation_p.E312K					cap methyltransferase 2	312																	ACATAGACTTCGGAGTTTCCT	0.413000													29	54					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312642	25312642	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr10:25312642C>T	ENST00000524413.1	+	3	837	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	THNSL1_ENST00000376356.4_Missense_Mutation_p.R164C			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	164					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TCTAATTTGTCGTCTAAAATT	0.348000													22	32					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29368223	29368223	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr2:29368223C>T	ENST00000320081.5	+	8	1266	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	CLIP4_ENST00000401617.2_Silent_p.A230A|CLIP4_ENST00000404424.1_Silent_p.A337A|CLIP4_ENST00000401605.1_Silent_p.A337A	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	337	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTAAATGTGCCCCCAAGTATG	0.343000													18	29					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226128	39226128	+	Silent	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:39226128G>A	ENST00000340369.3	-	2	5037	c.4809C>T	c.(4807-4809)gtC>gtT	p.V1603V	XIRP1_ENST00000421646.1_Silent_p.V286V|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1603							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTTGACCTCCGACCTCCTGGC	0.557000													60	100					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267867	65267867	+	RNA	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr11:65267867C>T	ENST00000534336.1	+	0	2635					NR_002819.2																						ACAGCTGACCCAGGTGCTACA	0.408000													11	21					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387497	20387497	+	Missense_Mutation	SNP	C	C	T	rs143170020		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:20387497C>T	ENST00000302451.4	-	4	684	c.436G>A	c.(436-438)Gtt>Att	p.V146I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	146					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCAACCAAACGACTAAGGCA	0.458000													14	21					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574319	28574319	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr8:28574319C>T	ENST00000220562.4	+	3	1645	c.743C>T	c.(742-744)cCg>cTg	p.P248L	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	248						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATGCAGGAGCCGGTGGTGCTG	0.527000													20	28					0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37378814	37378814	+	Silent	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr20:37378814G>T	ENST00000243903.4	+	2	574	c.537G>T	c.(535-537)tcG>tcT	p.S179S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	179					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAAAGAACTCGATGTGCAGTG	0.448000													25	39					2.41591e-17	2.83115e-17	1	1	0
NETO2	81831	broad.mit.edu	37	16	47117214	47117214	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:47117214C>T	ENST00000562435.1	-	9	1880	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	NETO2_ENST00000303155.5_Missense_Mutation_p.R492Q	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	499						integral to membrane	receptor activity	p.R499Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTCCATTACTCGGTCTTCCAG	0.443000										HNSCC(25;0.065)			36	65					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50314099	50314099	+	RNA	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:50314099C>T	ENST00000418948.1	+	0	2446							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCTGAGCCTCGCGCTGAGCG	0.697000													9	7					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138879	161138879	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:161138879A>C	ENST00000367999.4	+	7	979	c.713A>C	c.(712-714)cAg>cCg	p.Q238P	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.Q238P|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	238					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTGCCTCAGGCCCTTGAA	0.632000													26	77					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145174	56145174	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr2:56145174C>A	ENST00000394555.2	-	4	578	c.143G>T	c.(142-144)tGt>tTt	p.C48F	EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000355426.3_Missense_Mutation_p.C48F|EFEMP1_ENST00000394554.1_Missense_Mutation_p.C48F	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	48	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACAATGTCACATTCATCAAT	0.373000													29	37					7.38237e-10	8.26384e-10	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153026645	153026645	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr5:153026645C>T	ENST00000285900.5	+	3	721	c.378C>T	c.(376-378)cgC>cgT	p.R126R	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.R57R|GRIA1_ENST00000518783.1_Silent_p.R136R|GRIA1_ENST00000340592.5_Silent_p.R126R|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.R136R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	126					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCAGCTGCGCCCTGAACTGC	0.512000													33	54					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9582014	9582014	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr2:9582014G>C	ENST00000460593.1	+	9	2031	c.893G>C	c.(892-894)gGc>gCc	p.G298A	CPSF3_ENST00000238112.3_Missense_Mutation_p.G335A			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	335					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATGCAAAGTGGCTTATCCAGA	0.428000													21	57					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111637979	111637979	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:111637979C>T	ENST00000431670.2	+	4	2191	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R594W|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R594W|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R594W|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R621W|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R180W	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	594						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.R594R(2)|p.R621R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAAGAAACCCGGATAGTCAT	0.408000													39	74					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32599593	32599593	+	Splice_Site	SNP	A	A	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr8:32599593A>C	ENST00000341377.5	+	7	1217	c.700A>C	c.(700-702)Agt>Cgt	p.S234R	NRG1_ENST00000521670.1_Splice_Site_p.K234Q|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.3_Splice_Site_p.K234Q|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000338921.4_Splice_Site_p.K234Q|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	234					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAACCAAGAAAGTATGTCAAA	0.398000													6	40					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621420	65621420	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr15:65621420C>T	ENST00000327987.4	-	14	2523	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	758										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCATCAGGCCGCACCCCTGA	0.697000													3	10					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286835	33286835	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr6:33286835G>A	ENST00000374542.5	-	7	2306	c.2102C>T	c.(2101-2103)cCt>cTt	p.P701L	DAXX_ENST00000414083.2_Missense_Mutation_p.P626L|DAXX_ENST00000266000.6_Missense_Mutation_p.P701L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	701	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGCTGGAGAAGGGATGCAGAG	0.607000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								32	53					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291623	56291623	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chrX:56291623C>T	ENST00000374928.3	+	4	578	c.92C>T	c.(91-93)tCt>tTt	p.S31F	KLF8_ENST00000468660.1_Missense_Mutation_p.S31F	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTCACTGCTTCTGTTCGGAAC	0.398000													18	3					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130067796	130067796	+	Splice_Site	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:130067796C>T	ENST00000223208.5	-	2	367	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	CEP41_ENST00000541543.1_Splice_Site_p.D33N|CEP41_ENST00000489512.1_Splice_Site_p.G33S|CEP41_ENST00000343969.5_Splice_Site_p.G33S|CEP41_ENST00000495702.1_5'UTR	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol											CTTTACTCACCAGTGTCCAGT	0.303000													8	27					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237619919	237619919	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:237619919T>C	ENST00000366574.2	+	16	1813	c.1496T>C	c.(1495-1497)cTt>cCt	p.L499P	RYR2_ENST00000542537.1_Missense_Mutation_p.L483P|RYR2_ENST00000360064.6_Missense_Mutation_p.L497P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	499					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTCGTGCTTGAGTGCATA	0.418000													30	76					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217728	155217728	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:155217728C>A	ENST00000361361.2	-	12	2361	c.1852G>T	c.(1852-1854)Ggc>Tgc	p.G618C	FAM189B_ENST00000368368.3_Missense_Mutation_p.G600C|FAM189B_ENST00000350210.2_Missense_Mutation_p.G522C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	618						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCAGGCCGGCCCCACAGGCTC	0.622000													8	15					0.00448238	0.00454295	1	1	0
THNSL2	55258	broad.mit.edu	37	2	88474290	88474290	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr2:88474290G>T	ENST00000324166.5	+	2	2047	c.356G>T	c.(355-357)tGc>tTc	p.C119F	THNSL2_ENST00000343544.4_Missense_Mutation_p.C119F|THNSL2_ENST00000449349.1_Missense_Mutation_p.C87F|THNSL2_ENST00000402102.1_Missense_Mutation_p.C119F|THNSL2_ENST00000377254.3_Missense_Mutation_p.C119F|THNSL2_ENST00000358591.2_Missense_Mutation_p.C119F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	119					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCCCTGTCCTGCACAACACAG	0.522000													40	48					4.14481e-20	4.9343e-20	1	1	0
GSTT2	2953	broad.mit.edu	37	22	24323194	24323194	+	Silent	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr22:24323194G>T	ENST00000215780.5	+	2	218	c.168G>T	c.(166-168)acG>acT	p.T56T	GSTT2_ENST00000402588.3_Silent_p.T56T	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	56	GST N-terminal.					cytoplasm	glutathione transferase activity	p.T56T(1)		lung(1)	1						AACTGCCGACGCTCAAGGATG	0.557000													15	93					2.4624e-09	2.71588e-09	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31682938	31682938	+	Silent	SNP	A	A	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr20:31682938A>T	ENST00000375483.3	+	10	1377	c.1377A>T	c.(1375-1377)acA>acT	p.T459T		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	459						cytoplasm|extracellular region	lipid binding										CCACAGCCACACTGGGAGCCC	0.498000													5	97					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175615	79175615	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr14:79175615C>T	ENST00000554719.1	+	4	649	c.158C>T	c.(157-159)gCg>gTg	p.A53V	NRXN3_ENST00000335750.5_Missense_Mutation_p.A53V|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCCGGATTGCGGACACCAAG	0.463000													26	34					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227740	75227740	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr8:75227740C>T	ENST00000342232.4	-	2	535	c.495G>A	c.(493-495)tcG>tcA	p.S165S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	165					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGCTGCGCAGCGAGGCCAGCG	0.721000													14	6					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46329488	46329488	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr11:46329488C>T	ENST00000529193.1	+	3	904	c.453C>T	c.(451-453)gcC>gcT	p.A151A	CREB3L1_ENST00000288400.3_Silent_p.A151A			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	151	Poly-Ala.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CTGCCGCGGCCGCCATGGCCA	0.692000			T	FUS	myxofibrosarcoma								3	3					0	0	1	0	0
CEBPA	1050	broad.mit.edu	37	19	33792337	33792337	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr19:33792337C>T	ENST00000498907.2	-	1	1133	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	328	Leucine-zipper.				cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.D322_V328del(1)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TCAGCTGTTCCACCCGCTTGC	0.662000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				15	21					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101953424	101953424	+	Splice_Site	SNP	C	C	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr4:101953424C>G	ENST00000394854.3	-	12	2022	c.1339G>C	c.(1339-1341)Gct>Cct	p.A447P	PPP3CA_ENST00000507176.1_Splice_Site_p.A349P|PPP3CA_ENST00000323055.6_Splice_Site_p.A405P|PPP3CA_ENST00000512215.1_Splice_Site_p.A215P|PPP3CA_ENST00000394853.4_Splice_Site_p.A447P|PPP3CA_ENST00000523694.2_Splice_Site_p.A380P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	447					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTGCTTACCGCTTTGCAGG	0.517000													6	6					0	0	1	0	0
CDIPT	10423	broad.mit.edu	37	16	29872617	29872617	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:29872617G>T	ENST00000561555.1	-	1	398	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	CDIPT_ENST00000219789.6_Intron|CDIPT_ENST00000563415.1_Intron|CDIPT_ENST00000569956.1_Intron|CDIPT_ENST00000570016.1_Intron|CDIPT_ENST00000566113.1_Intron			O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	144						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						TTATGGCACAGTGGATGCAGG	0.572000													8	10					0.0381472	0.0381472	1	1	0
HNRNPH1	3187	broad.mit.edu	37	5	179048027	179048027	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr5:179048027G>A	ENST00000356731.5	-	3	1798	c.263C>T	c.(262-264)tCa>tTa	p.S88L	HNRNPH1_ENST00000329433.6_Missense_Mutation_p.S88L|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.S88L|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.S88L|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.S88L			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	88	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						AACGTTGTTTGACTTGAATAC	0.418000													8	70					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47852001	47852001	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr21:47852001T>A	ENST00000359568.5	+	38	8730	c.8623T>A	c.(8623-8625)Tta>Ata	p.L2875I	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2875					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGGCAGAATTAGAGCAGTC	0.602000													5	70					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432146	45432146	+	Silent	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr14:45432146G>A	ENST00000361462.2	+	1	705	c.522G>A	c.(520-522)gaG>gaA	p.E174E	FAM179B_ENST00000361577.3_Silent_p.E174E|FAM179B_ENST00000382233.2_Silent_p.E174E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	174							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCTTGAAGAGGCCTTTAGCT	0.542000													30	49					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519937	113519937	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:113519937G>T	ENST00000284601.3	-	4	1278	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	404					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						TCCTCTGAAGGTTGATGTGTA	0.403000													57	76					7.41606e-26	8.97103e-26	1	1	0
PAN2	9924	broad.mit.edu	37	12	56712105	56712105	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr12:56712105G>T	ENST00000425394.2	-	25	3866	c.3490C>A	c.(3490-3492)Cac>Aac	p.H1164N	PAN2_ENST00000548043.1_Missense_Mutation_p.H1164N|PAN2_ENST00000440411.3_Missense_Mutation_p.H1160N|PAN2_ENST00000257931.5_Missense_Mutation_p.H1163N|PAN2_ENST00000549090.1_5'UTR	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1164					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCACCTTGTGGAAAGACTCA	0.522000													4	97					2.56e-06	2.70423e-06	1	1	0
TYK2	7297	broad.mit.edu	37	19	10473002	10473002	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr19:10473002C>A	ENST00000525621.1	-	11	2088	c.1607G>T	c.(1606-1608)tGc>tTc	p.C536F	TYK2_ENST00000529370.1_Missense_Mutation_p.C536F|TYK2_ENST00000264818.6_Missense_Mutation_p.C536F|TYK2_ENST00000524462.1_Missense_Mutation_p.C351F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	536					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCAGCAAGCAGCCCTGCAA	0.647000													8	26					2.17888e-05	2.23857e-05	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121567541	121567541	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr10:121567541G>T	ENST00000361976.2	+	13	1704	c.1538G>T	c.(1537-1539)aGc>aTc	p.S513I		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	513	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GACTCCATTAGCAGACAGTAT	0.443000													30	58					2.36697e-06	2.53604e-06	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186043957	186043957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:186043957C>T	ENST00000271588.4	+	53	8453	c.8224C>T	c.(8224-8226)Cga>Tga	p.R2742*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R2742*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2742	Ig-like C2-type 25.				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						AGACACCGGACGATATACTTG	0.343000													37	48					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939543	76939543	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chrX:76939543A>G	ENST00000373344.5	-	9	1419	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I364T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	402					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGCCTTCTTAATATCAGCCAA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						202	40					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274551	35274551	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr15:35274551T>G	ENST00000356321.4	-	3	1429	c.1085A>C	c.(1084-1086)aAa>aCa	p.K362T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GAAACTCTTTTTAAATACTTT	0.338000													12	21					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8052950	8052950	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr17:8052950G>A	ENST00000317276.4	-	6	920	c.683C>T	c.(682-684)aCg>aTg	p.T228M	PER1_ENST00000581082.1_Intron|PER1_ENST00000354903.5_Missense_Mutation_p.T212M	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	228	PAS 1.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATTCGGCCCGTCAGGAAGGA	0.617000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	80					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125831779	125831779	+	Silent	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr11:125831779C>T	ENST00000392693.3	-	19	3598	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	CDON_ENST00000263577.7_Silent_p.V1157V|CDON_ENST00000531738.1_Silent_p.V534V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1157					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGCATACAGGCACCTTCACGT	0.567000													12	21					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005874	69005874	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr8:69005874A>G	ENST00000288368.4	+	21	2562	c.2285A>G	c.(2284-2286)gAg>gGg	p.E762G	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	762					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATAGCATTGAGAGTGCTCAA	0.418000													14	94					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117797570	117797570	+	Silent	SNP	C	C	T	rs150811111		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr9:117797570C>T	ENST00000350763.4	-	22	6111	c.5700G>A	c.(5698-5700)tcG>tcA	p.S1900S	TNC_ENST00000341037.4_Silent_p.S1718S|TNC_ENST00000542877.1_Silent_p.S1537S|TNC_ENST00000340094.3_Silent_p.S1536S|TNC_ENST00000346706.3_Silent_p.S1354S|TNC_ENST00000345230.3_Silent_p.S1263S|TNC_ENST00000535648.1_Silent_p.S1445S|TNC_ENST00000537320.1_Silent_p.S1263S|TNC_ENST00000423613.2_Silent_p.S1627S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1900	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGGCAGTTTCCGACTGAACCT	0.483000													30	13					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141918	54141918	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr8:54141918C>T	ENST00000265572.3	-	4	1379	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R361Q|OPRK1_ENST00000524278.1_Missense_Mutation_p.R272Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	361					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R361Q(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACTGTATTTCGGACTCTGCT	0.478000													28	35					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132181319	132181319	+	Silent	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:132181319C>A	ENST00000260818.6	+	16	1970	c.1722C>A	c.(1720-1722)tcC>tcA	p.S574S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	574							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCATCCTTCCATGGCAATAA	0.318000													54	73					1.16596e-39	1.43355e-39	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49440047	49440047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr12:49440047C>A	ENST00000301067.7	-	16	4578	c.4579G>T	c.(4579-4581)Gaa>Taa	p.E1527*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTCACCGTTCACAGTGGCGG	0.542000													15	21					4.93089e-13	5.68949e-13	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36700195	36700195	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr13:36700195A>C	ENST00000255448.4	-	2	291	c.80T>G	c.(79-81)gTg>gGg	p.V27G	DCLK1_ENST00000379892.4_Missense_Mutation_p.V27G|DCLK1_ENST00000360631.3_Missense_Mutation_p.V27G	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	27					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAGGCCGTTCACCCGCGACCC	0.617000													34	67					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103647	53103647	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:53103647G>C	ENST00000408890.4	+	1	299	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	95										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGTCTCCGAGGGCTGGAG	0.701000													10	11					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651577	96651577	+	Silent	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr6:96651577G>A	ENST00000302103.5	+	3	872	c.546G>A	c.(544-546)gtG>gtA	p.V182V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	182					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGTTTGAAGTGCCAAGCAAAG	0.448000													26	32					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41120272	41120272	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr19:41120272G>A	ENST00000308370.7	+	22	2933	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	LTBP4_ENST00000396819.3_Missense_Mutation_p.C911Y|LTBP4_ENST00000204005.9_Missense_Mutation_p.C941Y|LTBP4_ENST00000243562.9_Missense_Mutation_p.C76Y|LTBP4_ENST00000545697.1_Missense_Mutation_p.C431Y|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	978	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGCAGCGCTGTGAGAACTCT	0.687000													18	28					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21044061	21044061	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr18:21044061A>G	ENST00000339486.3	+	3	927	c.310A>G	c.(310-312)Aat>Gat	p.N104D	RIOK3_ENST00000581585.1_Missense_Mutation_p.N88D|RIOK3_ENST00000577501.1_Missense_Mutation_p.N104D	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	104					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAAAAATTCAATGGAGATAG	0.358000													25	39					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44002018	44002018	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr19:44002018C>T	ENST00000292140.5	-	5	905	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R182Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	182										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTGGCTCAGCCGCCTCTGTTC	0.607000													3	5					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102364618	102364618	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr5:102364618G>A	ENST00000438793.3	+	25	3241	c.2771G>A	c.(2770-2772)gGt>gAt	p.G924D	PAM_ENST00000348126.2_Missense_Mutation_p.G817D|PAM_ENST00000304400.7_Missense_Mutation_p.G925D|PAM_ENST00000346918.2_Missense_Mutation_p.G838D|PAM_ENST00000455264.2_Missense_Mutation_p.G856D|PAM_ENST00000379787.4_Missense_Mutation_p.G286D|PAM_ENST00000274392.9_Missense_Mutation_p.G826D	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	924					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTAAACCTTGGTAATTTCTTT	0.413000													21	31					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390668	107390668	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr6:107390668C>T	ENST00000429433.2	-	5	2376	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	BEND3_ENST00000369042.1_Missense_Mutation_p.R576H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	576	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CACCAGCAGGCGCGAGGCGAA	0.642000													25	54					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	52					0	0	1	0	0
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	RNA	DEL	AG	AG	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.500													3	5	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													3	3	---	---	---	---					
NBPF9	400818	broad.mit.edu	37	1	144828607	144828613	+	Frame_Shift_Del	DEL	TTCTACT	TTCTACT	-	rs12026633	by1000genomes	TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:144828607_144828613delTTCTACT	ENST00000338347.4	+	14	1653_1659	c.1653_1659delTTCTACT	c.(1651-1659)tattctactfs	p.YST551fs	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Frame_Shift_Del_p.YST149fs|NBPF9_ENST00000440491.2_3'UTR					neuroblastoma breakpoint family, member 9									p.S552S(1)		NS(2)|prostate(1)	3						ATGGATGTTATTCTACTCCGTCAATGT	0.469													21	69	---	---	---	---					
B3GALT2	8707	broad.mit.edu	37	1	193150465	193150467	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr1:193150465_193150467delGTG	ENST00000367434.4	-	2	981_983	c.226_228delCAC	c.(226-228)cacdel	p.H76del	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	76					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GAAGGGAGCTGTGGTTTGTCTCA	0.453													94	68	---	---	---	---					
PXK	54899	broad.mit.edu	37	3	58395317	58395318	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:58395317_58395318insA	ENST00000463280.1	+	13	1359_1360	c.1268_1269insA	c.(1267-1272)agaaaafs	p.RK423fs	PXK_ENST00000356151.2_Frame_Shift_Ins_p.RK456fs|PXK_ENST00000302779.5_Frame_Shift_Ins_p.RK439fs|PXK_ENST00000479241.1_Frame_Shift_Ins_p.RK439fs|PXK_ENST00000484288.1_Frame_Shift_Ins_p.RK456fs|PXK_ENST00000383716.3_Frame_Shift_Ins_p.RK423fs|PXK_ENST00000536660.1_Frame_Shift_Ins_p.RK319fs|PXK_ENST00000383715.4_Frame_Shift_Ins_p.RK439fs			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	456	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GAGGAGGAAAGAAAAAAAAGAA	0.416													14	29	---	---	---	---					
VEZF1P1	647319	broad.mit.edu	37	3	192873948	192873949	+	RNA	DEL	TG	TG	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr3:192873948_192873949delTG	ENST00000414895.1	-	0	425																											TGGCGCACCATGTGTGTCCGCA	0.495													26	47	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													3	3	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151835931	151835932	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr7:151835931_151835932delCT	ENST00000355193.2	-	59	14981_14982	c.14763_14764delAG	c.(14761-14766)agaggafs	p.G4922fs	KMT2C_ENST00000485655.2_Frame_Shift_Del_p.G70fs|KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G4865fs					lysine (K)-specific methyltransferase 2C																		ATTTTGTGTCCTCTCTCAAAAG	0.446													56	118	---	---	---	---					
CPEB3	22849	broad.mit.edu	37	10	93999434	93999434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr10:93999434delG	ENST00000412050.4	-	2	762	c.674delC	c.(673-675)gcgfs	p.A225fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.A225fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	225	Ala-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCTGCAACCGCCGAAGACGA	0.716													2	4	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103298108	103298109	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr10:103298108_103298109delCT	ENST00000370187.3	+	13	1754_1755	c.1636_1637delCT	c.(1636-1638)ctcfs	p.L546fs	BTRC_ENST00000408038.2_Frame_Shift_Del_p.L510fs|BTRC_ENST00000393441.4_Frame_Shift_Del_p.L505fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	546					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGCAGGGACACTCTGTCTACGG	0.446													52	78	---	---	---	---					
ERGIC2	51290	broad.mit.edu	37	12	29509323	29509323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr12:29509323delT	ENST00000360150.4	-	8	639	c.564delA	c.(562-564)acafs	p.T188fs		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	188					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACTTGCCCACTGTTATGTGAA	0.383													32	70	---	---	---	---					
LINC00621	100996930	broad.mit.edu	37	13	23489755	23489755	+	RNA	DEL	G	G	-	rs113790872	by1000genomes	TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr13:23489755delG	ENST00000577004.1	-	0	652																											GGGAGTGGGCGGGAGGGAGAG	0.697													2	4	---	---	---	---					
IGHV1OR15-1	388077	broad.mit.edu	37	15	22448683	22448683	+	RNA	DEL	G	G	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr15:22448683delG	ENST00000604066.1	-	0	51																				lung(4)	4						ACCTGGGAGTGGGCACCTGTG	0.572													58	223	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91020003	91020004	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr15:91020003_91020004delAA	ENST00000268182.5	+	24	3017_3018	c.2893_2894delAA	c.(2893-2895)aagfs	p.K965fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K393fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	965	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGCAAGGAGAAGAGAGAGAAG	0.351													51	92	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3828757	3828778	+	Frame_Shift_Del	DEL	GGTTTTCCATGCGGCGATCCTT	GGTTTTCCATGCGGCGATCCTT	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:3828757_3828778delGGTTTTCCATGCGGCGATCCTT	ENST00000262367.5	-	9	2673_2694	c.1864_1885delAAGGATCGCCGCATGGAAAACC	c.(1864-1887)aaggatcgccgcatggaaaacctgfs	p.KDRRMENL622fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.KDRRMENL584fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	622	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TAGGCTACCAGGTTTTCCATGCGGCGATCCTTTAGAGCTGCG	0.459			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						18	94	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71319087	71319104	+	In_Frame_Del	DEL	TCACCTGGGTTTCCTTGG	TCACCTGGGTTTCCTTGG	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr16:71319087_71319104delTCACCTGGGTTTCCTTGG	ENST00000338099.5	-	3	1056_1073	c.720_737delCCAAGGAAACCCAGGTGA	c.(718-738)tgccaaggaaacccaggtgaa>tga	p.240_246CQGNPGE>*	CMTR2_ENST00000434935.2_In_Frame_Del_p.240_246CQGNPGE>*					cap methyltransferase 2	240																	AGCTTCTTGTTCACCTGGGTTTCCTTGGCAATCAAAAC	0.422													16	44	---	---	---	---					
CD79A	973	broad.mit.edu	37	19	42383354	42383375	+	Splice_Site	DEL	TGCGCCGTGAGTGGCCCAGCCC	TGCGCCGTGAGTGGCCCAGCCC	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr19:42383354_42383375delTGCGCCGTGAGTGGCCCAGCCC	ENST00000221972.3	+	2	559_564	c.374_379delTGCGCCGTGAGTGGCCCAGCCC	c.(373-381)gtgcgccgt>ggt	p.VRR125fs	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	125					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TACCTCCGCGTGCGCCGTGAGTGGCCCAGCCCTGGCCCCTAC	0.590			"""O, S"""		DLBCL								5	10	---	---	---	---					
RSPH1	89765	broad.mit.edu	37	21	43905780	43905780	+	Splice_Site	DEL	T	T	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr21:43905780delT	ENST00000291536.3	-	5	667	c.500delA	c.(499-501)aat>at	p.N167fs	RSPH1_ENST00000398352.3_Splice_Site_p.N129fs	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	167					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TGGACTTACATTTTTGTTCAA	0.493													23	88	---	---	---	---					
MAPK11	5600	broad.mit.edu	37	22	50708667	50708667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chr22:50708667delC	ENST00000330651.6	-	1	155	c.55delG	c.(55-57)gagfs	p.E19fs	MAPK11_ENST00000495277.1_Intron|MAPK11_ENST00000449719.2_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	19					activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGCACCTCCCACACGGTC	0.781													2	4	---	---	---	---					
GPC3	2719	broad.mit.edu	37	X	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-CF-A9FL-01A-11D-A38G-08	TCGA-CF-A9FL-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6babbd-b14c-405b-8c1f-9908ea26b574	0f99d9d0-87af-4846-9a43-7a9209fbdd35	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000394299.2_In_Frame_Del_p.P31del|GPC3_ENST00000543339.1_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.690			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				2	4	---	---	---	---					
