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
COL12A1	1303	broad.mit.edu	37	6	75892975	75892975	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:75892975G>A	ENST00000322507.8	-	10	1991	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	561	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTTTATCGCAGGATCTCT	0.443000													18	131					0	0	0.007413	0	0
F12	2161	broad.mit.edu	37	5	176830536	176830536	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:176830536G>A	ENST00000253496.3	-	11	1381	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	445	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTAGGAGCGCACGGCCAAC	0.721000									Hereditary Angioedema				3	16					0	0	0.004672	0	0
KIAA1967	0	broad.mit.edu	37	8	22472959	22472959	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	KIAA1967_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.Q84Q			Q8N163	K1967_HUMAN		409					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGAGTTTCAGTACCTGCAGC	0.582000													30	132					0	0	0.012213	0	0
THSD7B	80731	broad.mit.edu	37	2	137814555	137814555	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463000													32	254					1.61788e-16	2.1426e-16	0.012213	1	0
SDHAP1	0	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2																						CAGGCCTGCACGACTCTGCGA	0.537000													5	63					0	0	0.006214	0	0
ABHD8	79575	broad.mit.edu	37	19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	234							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617000													13	143					0	0	0.002450	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	ENST00000312938.4	-	4	1770	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438000													13	106					0	0	0.013537	0	0
MDN1	23195	broad.mit.edu	37	6	90426386	90426386	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	ENST00000369393.3	-	44	6841	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D	MDN1_ENST00000428876.1_Silent_p.D2242D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2242					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463000													8	51					0	0	0.006214	0	0
CARF	79800	broad.mit.edu	37	2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:203839140T>C	ENST00000320443.8	+	12	2458	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000402905.2_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T					calcium responsive transcription factor																		GTAAATGATATAAAAAATCAC	0.328000													8	65					0	0	0.003080	0	0
ERN2	10595	broad.mit.edu	37	16	23716455	23716455	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	ENST00000256797.4	-	8	915	c.747G>A	c.(745-747)ctG>ctA	p.L249L	ERN2_ENST00000457008.2_Silent_p.L201L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	201					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637000													5	50					0	0	0.000602	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	72					0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137657572	137657572	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:137657572G>A	ENST00000371817.3	+	21	2494	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	694	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTCCTCCCGGACCTCCCGT	0.637000													21	116					0	0	0.002780	0	0
NMUR2	56923	broad.mit.edu	37	5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	ENST00000255262.3	-	1	488	c.323G>A	c.(322-324)cGc>cAc	p.R108H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587000													19	149					0	0	0.007413	0	0
PIPSL	0	broad.mit.edu	37	10	95719791	95719791	+	RNA	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:95719791C>A	ENST00000480546.1	-	0	1506					NR_002319.2																						TCAGGACAACCAAGGTGAACA	0.507000													6	24					2.7689e-08	3.57042e-08	0.001984	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	64					0	0	0.009096	0	0
CELSR2	1952	broad.mit.edu	37	1	109803688	109803688	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:109803688G>T	ENST00000271332.3	+	3	4044	c.3983G>T	c.(3982-3984)cGc>cTc	p.R1328L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1328	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGAGTGCTCGCTCAGGCCGT	0.597000													6	96					5.18039e-06	6.5087e-06	0.003080	1	0
RTEL1	51750	broad.mit.edu	37	20	62320908	62320908	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:62320908G>T	ENST00000318100.4	+	23	2759	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	644					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGATTGTCACGGGCCTCCCGT	0.662000													3	49					0.004672	0.00558361	0.004672	1	0
CBX4	8535	broad.mit.edu	37	17	77809099	77809099	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	ENST00000269397.4	-	5	519	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	114	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	127					0	0	0.004990	0	0
ATIC	471	broad.mit.edu	37	2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	ENST00000435675.1	+	1	492	c.101G>A	c.(100-102)gGa>gAa	p.G34E	ATIC_ENST00000236959.9_Missense_Mutation_p.G35E|ATIC_ENST00000540518.1_5'UTR			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	35					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473000			T	ALK	ALCL								20	84					0	0	0.008871	0	0
WIPI1	55062	broad.mit.edu	37	17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	342					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468000													4	56					0	0	0.000602	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	147						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398000													16	111					0	0	0.004990	0	0
WDR17	116966	broad.mit.edu	37	4	177058761	177058761	+	Splice_Site	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	ENST00000393643.2	+	9	1610	c.1359_splice	c.e9+1	p.E453_splice	WDR17_ENST00000507824.2_Splice_Site_p.E460_splice|WDR17_ENST00000508596.1_Splice_Site_p.E453_splice|WDR17_ENST00000280190.4_Splice_Site_p.E477_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249000													5	52					0	0	0.000602	0	0
PRPF19	27339	broad.mit.edu	37	11	60666069	60666069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:60666069C>A	ENST00000227524.4	-	13	1289	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	362					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562000													9	56					0.000274275	0.000335987	0.004482	1	0
ESF1	51575	broad.mit.edu	37	20	13763318	13763318	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:13763318C>T	ENST00000202816.1	-	2	576	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	157	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						TCTTTGCTATCCTTCTTCGGA	0.279000													5	34					0	0	0.001168	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	ENST00000318222.3	-	15	2699	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	773					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602000													15	90					0	0	0.007413	0	0
EDNRA	1909	broad.mit.edu	37	4	148407185	148407185	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCCCAACGCGCTGATAGCCAG	0.418000													15	86					0	0	0.002450	0	0
OR4P4	81300	broad.mit.edu	37	11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	rs143338269	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403000													16	41					0	0	0.004007	0	0
ZNF675	171392	broad.mit.edu	37	19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308000													12	37					0	0	0.001855	0	0
TRIO	7204	broad.mit.edu	37	5	14504503	14504503	+	Splice_Site	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8411_splice	c.e55-1	p.G2805_splice	TRIO_ENST00000537187.1_Splice_Site_p.G2629_splice|TRIO_ENST00000344135.5_Splice_Site_p.G304_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2805	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502000													6	85					0	0	0.001984	0	0
SDHAP1	0	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													10	74					0	0	0.013537	0	0
DNAH3	55567	broad.mit.edu	37	16	21109952	21109952	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:21109952C>T	ENST00000261383.3	-	17	2504	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	DNAH3_ENST00000415178.1_Silent_p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403000													7	119					0	0	0.003080	0	0
TTC13	79573	broad.mit.edu	37	1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	ENST00000366661.4	-	9	950	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	315							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353000													9	98					0.00829132	0.0096732	0.008291	1	0
CCDC129	223075	broad.mit.edu	37	7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	ENST00000409210.1	+	6	888	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512000													9	75					0	0	0.006214	0	0
NUP50	10762	broad.mit.edu	37	22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	ENST00000347635.3	+	5	1290	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	275	5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438000													3	20					0	0	0.001984	0	0
CHD7	55636	broad.mit.edu	37	8	61736614	61736614	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736614G>C	ENST00000525508.1	+	12	3417	c.3417G>C	c.(3415-3417)taG>taC	p.*1139Y	CHD7_ENST00000423902.2_Intron|CHD7_ENST00000524602.1_Intron			Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	0	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACCTGAATAGAATTGTTGCT	0.423000													6	81					0	0	0.001168	0	0
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													8	582	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agg>ag	p.SR81del	RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													2	4	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:72159821delT	ENST00000438125.1	-	0	984							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													8	61	---	---	---	---					
