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
PCDHGB7	56099	broad.mit.edu	37	5	140799049	140799049	+	Silent	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:140799049G>A	ENST00000398594.2	+	1	1623	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCCGCGCTCAGCGCCA	0.721000													7	49					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863161	50863161	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr10:50863161C>T	ENST00000395562.2	+	13	1878	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	CHAT_ENST00000337653.2_Missense_Mutation_p.P552L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L|CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	552					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGACTGGTGCCCACCTACGAG	0.532000													5	65					0	0	1	0	0
NR2C2	7182	broad.mit.edu	37	3	15062400	15062400	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr3:15062400C>T	ENST00000425241.1	+	5	879	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	173					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGTTTTGCCGGCTGAAAAA	0.413000													3	50					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	39					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	104					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528979	16528979	+	Silent	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:16528979G>A	ENST00000270747.3	-	13	2134	c.1998C>T	c.(1996-1998)caC>caT	p.H666H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	666	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAACACGTGGCCGGGGA	0.642000													13	27					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													3	46					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078464	179078464	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:179078464C>T	ENST00000502732.1	-	12	2141	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	ABL2_ENST00000344730.3_Silent_p.R631R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000512653.1_Silent_p.R631R|ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000504405.1_Silent_p.R610R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	646					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTCCTATCCCTGGTGAAGC	0.547000			T	ETV6	AML								9	90					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672106	39672106	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr21:39672106G>A	ENST00000328656.4	+	4	1226	c.923G>A	c.(922-924)gGt>gAt	p.G308D	KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						ATCTACTGGGGTTTTGAGTTT	0.458000													27	36					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	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	NM_001282387.1	NP_001269316.1	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								20	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			11	4					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007178	6007178	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:6007178T>C	ENST00000332249.4	-	1	1037	c.983A>G	c.(982-984)aAg>aGg	p.K328R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAATCCTTTTGTGTAAA	0.493000													8	11					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484148	20484148	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr20:20484148C>T	ENST00000202677.7	-	35	5062	c.5055G>A	c.(5053-5055)gtG>gtA	p.V1685V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAGAGATCCACCTGACAAA	0.463000													7	14					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47748073	47748073	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:47748073C>T	ENST00000360380.3	-	12	1555	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000396221.2_Missense_Mutation_p.E398K|STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	398					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATCTTCAACACCAGAG	0.408000													21	73					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76855051	76855051	+	Splice_Site	SNP	T	T	G			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chrX:76855051T>G	ENST00000373344.5	-	25	6001		c.e25-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCTTCTTTCTaaaaacaaac	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						90	26					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375499	101375499	+	Silent	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:101375499C>T	ENST00000344327.3	-	2	625	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	67					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGTCTGCCGCCGGTGAGCCA	0.463000													27	36					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron																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													10	138					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42513476	42513476	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:42513476G>A	ENST00000318522.5	+	10	1341	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	EML4_ENST00000402711.2_Missense_Mutation_p.G302D|EML4_ENST00000401738.3_Missense_Mutation_p.G371D	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	360					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATTGGACTTGGCACTTTTGAG	0.428000			T	ALK	NSCLC								4	114					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299435	25299435	+	RNA	SNP	C	C	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr15:25299435C>T	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA																							CCGTCATTCTCATCGGAACTG	0.493000													7	268					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132515	11132515	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr19:11132515G>T	ENST00000358026.2	+	19	3015	c.2731G>T	c.(2731-2733)Ggc>Tgc	p.G911C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	911	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACGGGCACACCGCT	0.592000			"""F, N, Mis"""		NSCLC								10	16					2.17888e-05	2.36045e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179458010	179458010	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:179458010G>A	ENST00000589042.1	-	299	59149	c.58925C>T	c.(58924-58926)cCt>cTt	p.P19642L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18001L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18001	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAAGATCAGGAACCCTAAA	0.403000													4	115					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969868	209969868	+	Translation_Start_Site	SNP	C	C	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:209969868C>A	ENST00000542854.1	-	0	203				IRF6_ENST00000367021.3_Missense_Mutation_p.Q68H	NM_001206696.1	NP_001193625.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCCCTTCCTGGTACTTCC	0.522000										HNSCC(57;0.16)			3	36					6.4e-05	6.74595e-05	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29192788	29192788	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:29192788G>A	ENST00000321990.4	+	11	3581	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1068					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAACTTATAGGAAATGAGTTA	0.299000													21	39					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45796886	45796886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:45796886delG	ENST00000450313.1	-	14	1659	c.1444delC	c.(1444-1446)cacfs	p.H482fs	MUTYH_ENST00000528013.2_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.H479fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	479	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCGGTGTGAAATTCCTCC	0.488			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				28	43	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103548438	103548441	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:103548438_103548441delTTCT	ENST00000358392.2	-	2	511_514	c.194_197delAGAA	c.(193-198)aagaatfs	p.KN65fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTTAGAATTCTTTCTGTTTGT	0.358													37	71	---	---	---	---					
ZEB2	9839	broad.mit.edu	37	2	145187587	145187588	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:145187587_145187588delTT	ENST00000558170.2	-	3	1263_1264	c.79_80delAA	c.(79-81)aacfs	p.N27fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	27						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTGTCATAGTTCACCACTGCA	0.411													20	38	---	---	---	---					
CC2D2A	57545	broad.mit.edu	37	4	15513005	15513007	+	In_Frame_Del	DEL	GAA	GAA	-	rs112367037		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr4:15513005_15513007delGAA	ENST00000424120.1	+	8	930_932	c.676_678delGAA	c.(676-678)gaadel	p.E229del	CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	229	Poly-Glu.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGAGGAAGGGGAAGAAGAAGAAC	0.443													7	10	---	---	---	---					
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.690													2	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													3	5	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs151078009		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													2	4	---	---	---	---					
