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
RAD51AP2	729475	broad.mit.edu	37	2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	ENST00000399080.2	-	1	406	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	128										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAGCCCTCAAATCAGA	0.488000													13	45					6.72482e-11	7.14513e-11	1	1	0
SLC35G6	643664	broad.mit.edu	37	17	7385920	7385920	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7385920G>A	ENST00000412468.2	+	2	732	c.617G>A	c.(616-618)gGg>gAg	p.G206E	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	206						integral to membrane											CTGTCCCTGGGGCTTCTGGTC	0.622000													56	96					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	ENST00000371418.4	+	8	1662	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I420V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	468					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428000													28	22					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													3	7					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17845207	17845207	+	Silent	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	ENST00000324096.4	+	7	3301	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1050	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632000													21	46					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	56					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526303	31526303	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr5:31526303G>A	ENST00000511367.2	-	4	981	c.737C>T	c.(736-738)tCc>tTc	p.S246F	DROSHA_ENST00000513349.1_Missense_Mutation_p.S246F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S246F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S246F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	246	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCGATCCAGGGACCGATGCCT	0.592000													26	31					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													4	42					0	0	1	0	0
CCNB2	9133	broad.mit.edu	37	15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	ENST00000288207.2	+	7	1041	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	284					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423000													10	44					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855965	76855965	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	ENST00000373344.5	-	23	5849	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTCTACTTAACATCTGAAAA	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						51	10					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	ENST00000358525.4	-	7	1136	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	341					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522000													4	62					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	ENST00000369797.3	+	20	3222	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1043	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502000													6	72					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	62					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	ENST00000331559.5	-	10	1498	c.1057A>G	c.(1057-1059)Atg>Gtg	p.M353V	MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000558555.1_Missense_Mutation_p.M324V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607000													5	8					0	0	1	0	0
TRAV9-2	0	broad.mit.edu	37	14	22409569	22409569	+	RNA	SNP	G	G	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr14:22409569G>C	ENST00000390441.2	+	0	115																											AGAACCCGTGGAAATTCAGTG	0.448000													5	3					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	ENST00000420246.2	-	5	596	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGGACGCGGGTGCCGGGCGG	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			73	10					2.13026e-44	2.33642e-44	1	1	0
CFTR	1080	broad.mit.edu	37	7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	ENST00000003084.6	+	14	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	631	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGGACATTTTCAGAACTCCA	0.338000									Cystic Fibrosis				34	31					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551565	99551565	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:99551565G>A	ENST00000373034.4	-	6	4832	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	PCDH19_ENST00000255531.7_Missense_Mutation_p.R1006W|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1005W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1053					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGCCTCCCGGATAACGCTG	0.592000													3	24					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20656935	20656935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr13:20656935C>T	ENST00000382869.3	+	23	3834	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000382874.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000382870.2_Nonsense_Mutation_p.R575*|ZMYM2_ENST00000494061.1_3'UTR	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATATTCTCTCGAGTTGAAGA	0.313000													6	5					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222093	29222093	+	Silent	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	ENST00000379558.4	+	4	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_ENST00000403861.2_Silent_p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	62							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGAACCGTCACAGCTCC	0.627000													16	14					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	ENST00000412331.2	+	6	1022	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	147						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388000													33	35					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	ENST00000268057.4	+	14	1212	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	BBS4_ENST00000539603.1_Missense_Mutation_p.A379T|BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483000									Bardet-Biedl syndrome				9	93					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	62					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	27					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	ENST00000378204.2	-	4	2023	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	406					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				18	10					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	ENST00000265825.5	+	6	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	474						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517000													12	31					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	ENST00000380881.4	-	20	4175	c.3360C>A	c.(3358-3360)gaC>gaA	p.D1120E	FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380880.3_Missense_Mutation_p.D1119E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1119					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGTGAACTGGTCGGCAGTTG	0.438000													6	55					5.9392e-07	6.11918e-07	1	1	0
EPG5	57724	broad.mit.edu	37	18	43534467	43534467	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr18:43534467T>C	ENST00000282041.5	-	2	935	c.901A>G	c.(901-903)Agg>Ggg	p.R301G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	301					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTGCTTCCTACATCGTGAG	0.423000													43	44					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													3	3	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	ENST00000435970.1	-	15	6090_6093	c.5274_5277delTTTA	c.(5272-5277)gafs	p.DL1758fs	REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1836					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)					40	88	---	---	---	---					
SNORA26	0	broad.mit.edu	37	9	89875499	89875500	+	RNA	INS	-	-	A	rs142686931		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:89875499_89875500insA	ENST00000391119.1	+	0	135_136																											GGAGCCACAGCaaaaaaaaaaa	0.366													2	4	---	---	---	---					
UTF1	8433	broad.mit.edu	37	10	135044734	135044734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:135044734delC	ENST00000304477.2	+	2	829	c.814delC	c.(814-816)ccfs	p.P273fs		NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN	undifferentiated embryonic cell transcription factor 1	273	Pro-rich.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		tccggccgcgcccccgtcGCT	0.786													2	4	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													16	239	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-	rs45480998		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)caa>ca	p.QQ548del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	548	Poly-Gln.						binding	p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.650			T	ETV6	"""AML, meningioma"""								3	5	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	6	---	---	---	---