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
IL6ST	3572	broad.mit.edu	37	5	55248114	55248114	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:55248114T>G	ENST00000381298.2	-	12	1828	c.1516A>C	c.(1516-1518)Agc>Cgc	p.S506R	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.S445R|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.S506R|IL6ST_ENST00000502326.3_Missense_Mutation_p.S506R|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	506	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GATTCAGGGCTTCCTGGTCCA	0.363000			O		hepatocellular ca								46	47					0	0	0.000147903	0	0
IQGAP3	128239	broad.mit.edu	37	1	156531700	156531700	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:156531700C>T	ENST00000361170.2	-	10	981	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	324					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCACCCCTCGCAGGGCCAG	0.562000													9	28					0	0	3.86212e-05	0	0
CMA1	1215	broad.mit.edu	37	14	24976701	24976701	+	Missense_Mutation	SNP	C	C	T	rs140753864		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:24976701C>T	ENST00000250378.3	-	2	99	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	24	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.G24W(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TCTGTGCCCCCGATGATCTCC	0.498000													28	46					0	0	0.000227799	0	0
ANXA6	309	broad.mit.edu	37	5	150488079	150488079	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:150488079C>T	ENST00000354546.5	-	23	1944	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	ANXA6_ENST00000356496.5_Missense_Mutation_p.D567N|ANXA6_ENST00000521512.1_Missense_Mutation_p.D360N|ANXA6_ENST00000377751.5_Missense_Mutation_p.D230N|ANXA6_ENST00000523714.1_Missense_Mutation_p.D541N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	573						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCCACGTCATAGTTGGTC	0.572000													41	112					0	0	0.000437636	0	0
NID1	4811	broad.mit.edu	37	1	236143148	236143148	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:236143148C>A	ENST00000264187.6	-	18	3565	c.3483G>T	c.(3481-3483)aaG>aaT	p.K1161N	NID1_ENST00000366595.3_Missense_Mutation_p.K1028N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1161					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AATACAGATTCTTCCCGTAGC	0.602000													14	42					1.05317e-09	2.22336e-08	0.000219431	1	0
DPEP2	64174	broad.mit.edu	37	16	68024759	68024759	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024759C>A	ENST00000412757.2	-	8	1539	c.874G>T	c.(874-876)Gct>Tct	p.A292S	DPEP2_ENST00000393847.1_Missense_Mutation_p.A292S|DPEP2_ENST00000572888.1_Missense_Mutation_p.A292S			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	292					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		ACATTCCGAGCACTGTTGCAC	0.587000													36	186					3.33393e-15	7.26907e-14	0.000159656	1	0
BBS7	55212	broad.mit.edu	37	4	122766735	122766735	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:122766735A>C	ENST00000264499.4	-	11	1337	c.1154T>G	c.(1153-1155)tTt>tGt	p.F385C	BBS7_ENST00000506636.1_Missense_Mutation_p.F385C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	385					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTTAGTGTAAATTTATCATT	0.328000									Bardet-Biedl syndrome				11	69					0	0	6.40141e-05	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860594	67860594	+	Splice_Site	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67860594G>A	ENST00000388833.3	+	12	1616		c.e12-1		TSNAXIP1_ENST00000561639.1_Splice_Site|TSNAXIP1_ENST00000415766.3_Splice_Site	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1						cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CGATCCCGCAGAAAGAGACGT	0.498000													12	90					0	0	0.000151284	0	0
PRDM9	56979	broad.mit.edu	37	5	23522742	23522742	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:23522742C>A	ENST00000296682.3	+	8	812	c.630C>A	c.(628-630)aaC>aaA	p.N210K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	210					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGTGTCAGAACTTCTTCATTG	0.498000										HNSCC(3;0.000094)			8	44					5.18039e-06	0.000105999	0.000157383	1	0
ZNF208	7757	broad.mit.edu	37	19	22156977	22156977	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:22156977A>T	ENST00000397126.4	-	4	1007	c.859T>A	c.(859-861)Tgt>Agt	p.C287S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTCTTCACATTTGTTGGGT	0.383000													14	29					0	0	0.000219431	0	0
PRELP	5549	broad.mit.edu	37	1	203453021	203453021	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:203453021C>T	ENST00000343110.2	+	2	836	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	237					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P237S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAAGATGCCGCCCAGGGT	0.552000													5	149					0	0	3.59834e-05	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494950	1494950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:1494950G>A	ENST00000283415.3	-	3	490	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	120					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCGCCTGCCGCCCCTTCACG	0.652000													8	18					0	0	3.86212e-05	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860932	67860932	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67860932G>A	ENST00000388833.3	+	13	1836	c.1459G>A	c.(1459-1461)Gct>Act	p.A487T	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A541T|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.A472T	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	487					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATGACAAATGCTGACAGTCA	0.507000													10	75					0	0	0.000442599	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301901	120301901	+	Silent	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:120301901C>A	ENST00000369406.3	-	4	739	c.690G>T	c.(688-690)ctG>ctT	p.L230L	HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Silent_p.L188L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	230					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGTTCCCCTCAGCCCTGGAA	0.458000													21	2944					6.4e-05	0.00119887	6.4e-05	1	0
RBKS	64080	broad.mit.edu	37	2	28050600	28050600	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:28050600G>A	ENST00000302188.3	-	7	1381	c.629C>T	c.(628-630)aCg>aTg	p.T210M	RBKS_ENST00000444339.2_Missense_Mutation_p.T210M	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	210					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCTGCCCACCGTGAGGCCAGT	0.478000													9	6					0	0	0.000274275	0	0
ESF1	51575	broad.mit.edu	37	20	13695704	13695704	+	Silent	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:13695704C>T	ENST00000202816.1	-	14	2480	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	791	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGCCTTCTCCTCAAGGATTT	0.413000													28	133					0	0	0.000184323	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	A	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:107114004A>C	ENST00000454421.2	-	0	167																											GGCTGGACCAAGCCTTCCCCA	0.577000													6	138					0	0	3.86212e-05	0	0
ARID5B	84159	broad.mit.edu	37	10	63850684	63850684	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr10:63850684C>T	ENST00000279873.7	+	10	1872	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	ARID5B_ENST00000309334.5_Missense_Mutation_p.L245F	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	488					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCTGAGCCTCTCCCAGCAGC	0.428000													22	25					0	0	0.00047179	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438000													5	83					0	0	3.86212e-05	0	0
WWP2	11060	broad.mit.edu	37	16	69874163	69874163	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:69874163G>A	ENST00000359154.2	+	5	576	c.475G>A	c.(475-477)Gat>Aat	p.D159N	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.D159N|WWP2_ENST00000448661.1_Missense_Mutation_p.D159N|WWP2_ENST00000542271.1_Missense_Mutation_p.D43N|WWP2_ENST00000569174.1_Missense_Mutation_p.D159N	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	159					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCCTGACAGATGGTGAGTG	0.597000													10	78					0	0	3.86212e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637000													5	42					0	0	3.59834e-05	0	0
BRINP3	339479	broad.mit.edu	37	1	190067796	190067796	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:190067796C>A	ENST00000367462.3	-	8	1884	c.1653G>T	c.(1651-1653)ttG>ttT	p.L551F	FAM5C_ENST00000534846.1_Missense_Mutation_p.L449F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		551						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGAGAGACCCAAAATCATAT	0.478000													19	66					5.3912e-06	0.000108641	7.07596e-05	1	0
NOTCH2	4853	broad.mit.edu	37	1	120462861	120462861	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:120462861G>T	ENST00000256646.2	-	30	5689	c.5470C>A	c.(5470-5472)Cgt>Agt	p.R1824S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1824					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGGGCCACGGACATTCACA	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	2875					3.59834e-05	0.000683684	3.59834e-05	1	0
ZNF408	79797	broad.mit.edu	37	11	46726143	46726143	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:46726143G>C	ENST00000311764.2	+	5	1123	c.893G>C	c.(892-894)gGc>gCc	p.G298A		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGCCAGGGGCACCCAGCCG	0.617000													16	24					0	0	7.07596e-05	0	0
YBX1	4904	broad.mit.edu	37	1	43166649	43166649	+	Missense_Mutation	SNP	C	C	T	rs141968223		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:43166649C>T	ENST00000321358.7	+	7	1077	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	313					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.S313L(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGAGAATTCGTCCGCTCCC	0.552000													19	52					0	0	0.000175454	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102457883	102457883	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr14:102457883G>C	ENST00000360184.4	+	11	3052	c.2888G>C	c.(2887-2889)aGa>aCa	p.R963T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	963	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATGAGCTAAGAATAACCAAT	0.343000													20	29					0	0	0.000117367	0	0
DPEP2	64174	broad.mit.edu	37	16	68024883	68024883	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024883C>T	ENST00000412757.2	-	8	1415	c.750G>A	c.(748-750)atG>atA	p.M250I	DPEP2_ENST00000393847.1_Missense_Mutation_p.M250I|DPEP2_ENST00000572888.1_Missense_Mutation_p.M250I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	250					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCAGGCGGTTCATTTCTGCCA	0.532000													7	96					0	0	0.000157383	0	0
CTU2	348180	broad.mit.edu	37	16	88781275	88781275	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:88781275C>T	ENST00000567949.1	+	13	1582	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	CTU2_ENST00000312060.5_Missense_Mutation_p.P454S|CTU2_ENST00000378384.3_Missense_Mutation_p.P367S|CTU2_ENST00000453996.2_Missense_Mutation_p.P454S			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	454					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGGAGGACCCCCAAGCCTG	0.652000													6	32					0	0	8.12818e-05	0	0
SLC12A4	6560	broad.mit.edu	37	16	67984340	67984340	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67984340G>T	ENST00000422611.2	-	11	1556	c.1517C>A	c.(1516-1518)cCc>cAc	p.P506H	SLC12A4_ENST00000316341.3_Missense_Mutation_p.P504H|SLC12A4_ENST00000537830.2_Missense_Mutation_p.P498H|SLC12A4_ENST00000541864.2_Missense_Mutation_p.P473H|SLC12A4_ENST00000338335.3_Missense_Mutation_p.P504H|SLC12A4_ENST00000572037.1_Missense_Mutation_p.P456H|SLC12A4_ENST00000576616.1_Missense_Mutation_p.P504H	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	504					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GATGACCCAGGGTGAAGGCCA	0.617000													5	46					2.0095e-06	4.17599e-05	8.12818e-05	1	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													4	55					0	0	0.00024832	0	0
ANKRD44	91526	broad.mit.edu	37	2	197986223	197986223	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr2:197986223A>G	ENST00000328737.2	-	8	740	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R	ANKRD44_ENST00000409153.1_Missense_Mutation_p.C247R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.C222R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.C247R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.C239R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.C175R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.C222R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	247							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATTGTAGCAGGCGATGTGA	0.438000													16	16					0	0	7.07596e-05	0	0
TIMM21	29090	broad.mit.edu	37	18	71816215	71816215	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr18:71816215C>T	ENST00000580087.1	+	1	458	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TIMM21_ENST00000169551.6_Missense_Mutation_p.L58F			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	58					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TAGATGTATTCTTGGAGTCAC	0.498000													47	103					0	0	0.000147903	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188621	69188621	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:69188621C>G	ENST00000344157.4	-	11	1782	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E465Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E483Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	483	YTH.							p.E483*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTCCACATTCAAGTTCAATT	0.373000													12	54					0	0	0.000308642	0	0
COX11	1353	broad.mit.edu	37	17	53045939	53045939	+	Silent	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:53045939C>A	ENST00000299335.3	-	1	207	c.69G>T	c.(67-69)ggG>ggT	p.G23G	COX11_ENST00000571584.1_Silent_p.G23G	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	23					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGGTTGGAGACCCAGGGTGGA	0.612000													20	70					3.10358e-05	0.000598226	0.000295444	1	0
BRPF1	7862	broad.mit.edu	37	3	9780769	9780769	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:9780769A>T	ENST00000383829.2	+	3	1090	c.686A>T	c.(685-687)aAt>aTt	p.N229I	BRPF1_ENST00000457855.1_Missense_Mutation_p.N229I|BRPF1_ENST00000302054.3_Missense_Mutation_p.N229I|BRPF1_ENST00000424362.1_Missense_Mutation_p.N229I|BRPF1_ENST00000433861.2_Missense_Mutation_p.N229I	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	229					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATATCATGAATGAGCGTCGG	0.493000													14	52					0	0	0.000151284	0	0
DPEP2	64174	broad.mit.edu	37	16	68024861	68024861	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024861C>T	ENST00000412757.2	-	8	1437	c.772G>A	c.(772-774)Gac>Aac	p.D258N	DPEP2_ENST00000393847.1_Missense_Mutation_p.D258N|DPEP2_ENST00000572888.1_Missense_Mutation_p.D258N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	258					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGATAAGTCTACCATCATG	0.547000													10	112					0	0	0.00010058	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199124	32199124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:32199124C>T	ENST00000346541.3	+	4	967	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L135F|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L115F|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L154F|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L115F|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L144F|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L115F	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	144	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGTGCGGACTCTTGTTCTTGC	0.488000													19	76					0	0	0.000132079	0	0
DDIT3	1649	broad.mit.edu	37	12	57911175	57911175	+	Silent	SNP	T	T	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr12:57911175T>G	ENST00000551116.1	-	3	351	c.84A>C	c.(82-84)tcA>tcC	p.S28S	DDIT3_ENST00000346473.3_Silent_p.S5S|DDIT3_ENST00000547303.1_Silent_p.S5S|DDIT3_ENST00000552740.1_Silent_p.S28S	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	5					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						AGAAAGGCAATGACTCAGCTG	0.517000			T	FUS	liposarcoma								8	37					0	0	0.000274275	0	0
ZNF16	7564	broad.mit.edu	37	8	146156591	146156591	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr8:146156591G>A	ENST00000276816.4	-	4	1768	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	ZNF16_ENST00000394909.2_Missense_Mutation_p.R528C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGCTGCGACCAAAGGTC	0.567000													20	40					0	0	9.22233e-05	0	0
WNK4	65266	broad.mit.edu	37	17	40947833	40947833	+	Silent	SNP	T	T	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:40947833T>G	ENST00000246914.5	+	16	3234	c.3213T>G	c.(3211-3213)gcT>gcG	p.A1071A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1071					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGCTCTGGCTGAGAGCGACC	0.607000													16	25					0	0	7.07596e-05	0	0
TIAM1	7074	broad.mit.edu	37	21	32496904	32496904	+	Silent	SNP	A	A	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr21:32496904A>G	ENST00000286827.3	-	28	4713	c.4242T>C	c.(4240-4242)taT>taC	p.Y1414Y	TIAM1_ENST00000541036.1_Silent_p.Y1354Y	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1414					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAAAGGGACATATTGCTGGG	0.532000													37	28					0	0	0.000191422	0	0
ACER1	125981	broad.mit.edu	37	19	6307274	6307274	+	Silent	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:6307274C>T	ENST00000301452.4	-	5	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	172						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGACCTCAATCAGGTGCCGAA	0.562000													19	30					0	0	0.000132079	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785145	8785145	+	Silent	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:8785145G>A	ENST00000447110.1	-	16	2383	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	PIK3R5_ENST00000584803.1_Silent_p.S752S|PIK3R5_ENST00000581552.1_Silent_p.S753S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	753	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGAGGTTCACGGAGGTACAGA	0.622000													4	15					0	0	0.000602214	0	0
DPEP2	64174	broad.mit.edu	37	16	68024897	68024897	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:68024897C>G	ENST00000412757.2	-	8	1401	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L	DPEP2_ENST00000393847.1_Missense_Mutation_p.V246L|DPEP2_ENST00000572888.1_Missense_Mutation_p.V246L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	246					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TCTGCCACCACCTTCTGCAGG	0.522000													6	88					0	0	8.12818e-05	0	0
BMS1	9790	broad.mit.edu	37	10	43317546	43317546	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr10:43317546G>A	ENST00000374518.4	+	19	3109	c.3046G>A	c.(3046-3048)Gat>Aat	p.D1016N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1016					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTTGTCCTTGATCTGGATAA	0.308000													25	57					0	0	0.000147802	0	0
KIT	3815	broad.mit.edu	37	4	55599340	55599340	+	Missense_Mutation	SNP	T	T	G	rs121913514		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr4:55599340T>G	ENST00000288135.5	+	17	2563	c.2466T>G	c.(2464-2466)aaT>aaG	p.N822K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase.		N -> K (in a germ cell tumor of the testis; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.N822K(34)|p.N822N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATTCTAATTATGTGGTTA	0.383000	N822K(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				92	53					0	0	0.000147903	0	0
LRRN1	57633	broad.mit.edu	37	3	3887651	3887651	+	Silent	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:3887651G>A	ENST00000319331.3	+	2	2087	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	442	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGGCACGACGGTTTTCCTAG	0.448000													67	31					0	0	0.000147903	0	0
NAALADL2	254827	broad.mit.edu	37	3	175165061	175165061	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:175165061G>A	ENST00000454872.1	+	6	1263	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	379					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTCTCTATTAGTGCAGCCCAT	0.393000													5	11					0	0	8.12818e-05	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433261	104433261	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr9:104433261C>A	ENST00000361820.3	-	3	2033	c.1433G>T	c.(1432-1434)tGg>tTg	p.W478L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	478					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGCGGGTCCACATTGGCTT	0.498000													62	118					1.17621e-14	2.52317e-13	0.000147903	1	0
ARRDC5	645432	broad.mit.edu	37	19	4902820	4902820	+	Silent	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:4902820C>T	ENST00000381781.2	-	1	59	c.60G>A	c.(58-60)tcG>tcA	p.S20S		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	20					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CTAATTCGATCGACTTCACCA	0.547000													35	67					0	0	0.00058488	0	0
LRRC4	64101	broad.mit.edu	37	7	127669618	127669618	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:127669618G>A	ENST00000249363.3	-	2	1333	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	359	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAGGTCTCGAGGTGCGTCCAT	0.597000													11	52					0	0	0.000151284	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473000													12	44					0	0	0.000219431	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861433	67861433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:67861433G>T	ENST00000388833.3	+	15	2064	c.1687G>T	c.(1687-1689)Gag>Tag	p.E563*	TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.E617*|TSNAXIP1_ENST00000415766.3_Nonsense_Mutation_p.E548*	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	563					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		ATACATGGATGAGAAGGACGA	0.567000													22	130					3.7963e-18	8.41514e-17	0.00047179	1	0
NOMO2	283820	broad.mit.edu	37	16	18549973	18549973	+	Silent	SNP	G	G	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:18549973G>A	ENST00000330537.6	-	11	1265	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	NOMO2_ENST00000381474.3_Silent_p.F365F|NOMO2_ENST00000543392.1_Silent_p.F198F	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	365						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCTCAAGGCGGAATGAGCCAT	0.403000													41	30					0	0	0.000147903	0	0
PTPRT	11122	broad.mit.edu	37	20	40828021	40828021	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr20:40828021C>A	ENST00000373198.3	-	17	2651	c.2416G>T	c.(2416-2418)Gcc>Tcc	p.A806S	PTPRT_ENST00000373193.3_Missense_Mutation_p.A787S|PTPRT_ENST00000356100.2_Missense_Mutation_p.A793S|PTPRT_ENST00000373190.1_Missense_Mutation_p.A784S|PTPRT_ENST00000373201.1_Missense_Mutation_p.A774S|PTPRT_ENST00000373187.1_Missense_Mutation_p.A784S|PTPRT_ENST00000373184.1_Missense_Mutation_p.A774S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	784					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCTTCTTGGCCAGCTTCCTT	0.552000													38	118					2.54651e-27	5.8394e-26	0.000270559	1	0
POU1F1	5449	broad.mit.edu	37	3	87309092	87309092	+	Silent	SNP	C	C	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr3:87309092C>T	ENST00000350375.2	-	6	952	c.828G>A	c.(826-828)ctG>ctA	p.L276L	POU1F1_ENST00000560656.1_3'UTR|POU1F1_ENST00000344265.3_Silent_p.L302L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	276					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AACTCTGATTCAGACTTGTTT	0.373000													11	54					0	0	0.00010058	0	0
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:6257784_6257785insT	ENST00000234875.4	-	2	82_83	c.44_45insA	c.(43-45)aaafs	p.K15fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""								8	45	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													8	114	---	---	---	---					
HNRNPA2B1	3181	broad.mit.edu	37	7	26236930	26236934	+	Splice_Site	DEL	CTTAC	CTTAC	-	rs111244034		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:26236930_26236934delCTTAC	ENST00000354667.4	-	4	469		c.e4+1		HNRNPA2B1_ENST00000356674.7_Splice_Site	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCATTGTTTGCTTACCTCTCTTGCT	0.400			T	ETV1	prostate								73	222	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89					NR_003655.2																						TCCTCCCACCCTGAGTCTAAAC	0.559													11	22	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													4	5	---	---	---	---					
IFITM5	387733	broad.mit.edu	37	11	299396	299396	+	Frame_Shift_Del	DEL	G	G	-	rs142041432		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:299396delG	ENST00000382614.2	-	1	130	c.95delC	c.(94-96)cgfs	p.P33fs		NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	33					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCTCGAGGCGGGGGGTGCGG	0.677													2	4	---	---	---	---					
OR5D14	219436	broad.mit.edu	37	11	55563137	55563140	+	Frame_Shift_Del	DEL	ATGT	ATGT	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:55563137_55563140delATGT	ENST00000335605.1	+	1	106_109	c.106_109delATGT	c.(106-111)atfs	p.MY36fs		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTTTCTGCTCATGTATGTTATCAC	0.402													33	17	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997567	63997568	+	RNA	DEL	AA	AA	-	rs11364788		TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:63997567_63997568delAA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAAA	0.500													3	6	---	---	---	---					
ARCN1	372	broad.mit.edu	37	11	118455224	118455224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr11:118455224delT	ENST00000359415.4	+	6	971	c.806delT	c.(805-807)ctfs	p.L269fs	ARCN1_ENST00000392859.3_Frame_Shift_Del_p.L140fs|ARCN1_ENST00000264028.4_Frame_Shift_Del_p.L228fs|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	228	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCTTTAAAACTTGGAGCCAAA	0.388													10	31	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													3	4	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													4	9	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													7	172	---	---	---	---					
FOXC2	2303	broad.mit.edu	37	16	86601480	86601480	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr16:86601480delG	ENST00000320354.4	+	1	624	c.539delG	c.(538-540)cgfs	p.R180fs		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	180					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AAGGAGGAGCGGGCCCACCTC	0.682									Late-onset Hereditary Lymphedema				13	23	---	---	---	---					
SCARF1	8578	broad.mit.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	-	AGC	rs142617742	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr17:1548956_1548957insAGC	ENST00000263071.4	-	1	84_85	c.35_36insGCT	c.(34-36)ctg>cGCTtg	p.11_12insR	SCARF1_ENST00000348987.3_In_Frame_Ins_p.11_12insR|SCARF1_ENST00000571272.1_In_Frame_Ins_p.11_12insR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	11					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698													9	23	---	---	---	---					
PPM1N	147699	broad.mit.edu	37	19	46002007	46002007	+	Frame_Shift_Del	DEL	C	C	-	rs140525169	by1000genomes	TCGA-GN-A264-06A-11D-A196-08	TCGA-GN-A264-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	450e8eba-a3a9-4dcb-b423-e33dfcd5c34e	bee27bc1-98f6-4819-b8af-ad2d0aaa3dce	g.chr19:46002007delC	ENST00000324688.4	+	1	143	c.43delC	c.(43-45)ccfs	p.P16fs	PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Frame_Shift_Del_p.P94fs|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	94							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCTGGTCTGCCCCCGGGCTG	0.697													2	4	---	---	---	---