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
CCDC33	80125	broad.mit.edu	37	15	74623324	74623324	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:74623324G>T	ENST00000321288.5	+	16	2157	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	CCDC33_ENST00000268082.4_Missense_Mutation_p.K109N|CCDC33_ENST00000558821.1_Missense_Mutation_p.K109N|CCDC33_ENST00000398814.3_Missense_Mutation_p.K516N			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	719							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCACAGAAGAATGATCGAG	0.607000													4	9					0.00024832	0.000255624	1	1	0
PAH	5053	broad.mit.edu	37	12	103246665	103246665	+	Missense_Mutation	SNP	C	C	T	rs62642908		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr12:103246665C>T	ENST00000553106.1	-	7	1242	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PAH_ENST00000307000.2_Missense_Mutation_p.G252D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	257			G -> C (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAAGGCCAGGCCACCCAAGAA	0.537000													19	43					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349484	89349484	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:89349484G>A	ENST00000301030.4	-	9	3926	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1156W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGGCCTCCCGTCCTTCCTCC	0.612000													4	87					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25718594	25718594	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:25718594G>A	ENST00000349320.3	-	6	865	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RHCE_ENST00000413854.1_Silent_p.F175F|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349438.4_Silent_p.F175F|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000294413.7_Silent_p.F175F|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000374352.2_Silent_p.F159F|RHCE_ENST00000243186.6_Silent_p.F175F|RHCE_ENST00000425135.1_Silent_p.F175F			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	175						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGGCTGCGAACACGTAGA	0.532000													59	68					0	0	1	0	0
RP11-178L8.4	0	broad.mit.edu	37	16	87367623	87367623	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:87367623C>T	ENST00000568879.1	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	FBXO31_ENST00000311635.7_Silent_p.E422E																							CGCCACCATCCTCACCAGGTG	0.736000													21	18					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026189	56026189	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:56026189G>A	ENST00000288221.6	-	11	2406	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	717						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCCACACTCGTCGCGGTAGT	0.483000													15	139					0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136561043	136561043	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:136561043A>G	ENST00000355849.5	+	4	781	c.371A>G	c.(370-372)aAt>aGt	p.N124S	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	124	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCCATCTCAATGATGATCTC	0.393000													9	71					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112705	207112705	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:207112705C>T	ENST00000356495.4	-	3	330	c.147G>A	c.(145-147)cgG>cgA	p.R49R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGGGTGTGCCGGTTGACAG	0.567000													4	66					0	0	1	0	0
EPHB6	0	broad.mit.edu	37	7	142566372	142566372	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr7:142566372G>A	ENST00000392957.2	+	15	2948	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A721T|EPHB6_ENST00000411471.2_Missense_Mutation_p.A444T	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	721	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCCGGGCCGCAGTGCTGGG	0.687000													3	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283044	152283044	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:152283044A>C	ENST00000368799.1	-	3	4353	c.4318T>G	c.(4318-4320)Tct>Gct	p.S1440A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587000									Ichthyosis				79	111					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299	by1000genomes	TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:105263256G>A	ENST00000507740.1	+	21	3374	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	RIMS2_ENST00000262231.10_Silent_p.P1071P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000436393.2_Silent_p.P1250P|RIMS2_ENST00000339750.2_Silent_p.P168P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408000										HNSCC(12;0.0054)			35	39					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138642849	138642849	+	Silent	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr9:138642849G>A	ENST00000298480.5	+	4	470	c.396G>A	c.(394-396)gtG>gtA	p.V132V	KCNT1_ENST00000488444.2_Silent_p.V113V|KCNT1_ENST00000487664.1_Silent_p.V84V|KCNT1_ENST00000486577.2_Silent_p.V93V|KCNT1_ENST00000263604.3_Silent_p.V113V|KCNT1_ENST00000371757.2_Silent_p.V132V|KCNT1_ENST00000491806.2_Silent_p.V99V|KCNT1_ENST00000490355.2_Silent_p.V113V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	132						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACATTGTGCGCGTCCTGC	0.701000													32	82					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	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								36	50					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355295	79355295	+	Silent	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr5:79355295A>C	ENST00000350881.2	+	6	955	c.765A>C	c.(763-765)atA>atC	p.I255I	THBS4_ENST00000511733.1_Silent_p.I164I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	255					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAAACACCATAGCTGAATGCC	0.443000													38	57					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179323278	179323278	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:179323278A>T	ENST00000409117.3	+	5	947	c.591A>T	c.(589-591)aaA>aaT	p.K197N	DFNB59_ENST00000375129.4_Missense_Mutation_p.K197N|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	197					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GAAGGGACAAAGCTATTGTTT	0.353000													37	53					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627000													56	60					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985169	57985169	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:57985169T>C	ENST00000343280.4	-	5	1203	c.943A>G	c.(943-945)Atc>Gtc	p.I315V	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.I203V|ZNF772_ENST00000356584.3_Missense_Mutation_p.I274V|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCAGTGTGGATTCTCTGGTGC	0.448000													11	146					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020270	184020270	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:184020270A>C	ENST00000310118.4	+	6	1375	c.817A>C	c.(817-819)Aat>Cat	p.N273H	PSMD2_ENST00000439383.1_Missense_Mutation_p.N143H|PSMD2_ENST00000435761.1_Missense_Mutation_p.N114H|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGCTCAATGACATGGA	0.498000													5	39					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643953	82643953	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:82643953A>T	ENST00000533655.1	+	6	1785	c.1573A>T	c.(1573-1575)Aat>Tat	p.N525Y	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.N525Y|C11orf82_ENST00000329143.3_Missense_Mutation_p.N224Y|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	525					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGTAAATCATAATGGAAGAGA	0.348000													13	22					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923319	24923319	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:24923319A>G	ENST00000329468.2	+	1	2779	c.2305A>G	c.(2305-2307)Acc>Gcc	p.T769A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCAGGAGCCACCCCTCAACC	0.567000													5	198					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103411655	103411655	+	Silent	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:103411655C>T	ENST00000493442.1	+	1	355	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	63										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCGCTTCCACACCAACAGGT	0.672000													3	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			41	7					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644818	20644818	+	RNA	SNP	A	A	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:20644818A>G	ENST00000428453.1	-	0	3129																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGAAGTCAAACAGCTTCTCC	0.532000													6	58					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54791239	54791239	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr6:54791239G>A	ENST00000306858.7	+	3	631	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	172										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCAACTCGAGGAGTATCT	0.333000													42	49					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33364209	33364209	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:33364209C>A	ENST00000374796.2	-	5	2848	c.278G>T	c.(277-279)aGc>aTc	p.S93I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S93I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	93	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACACGCACGCTGTTCCAGGG	0.488000													4	87					0.014758	0.014758	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128394439	128394439	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:128394439C>T	ENST00000389524.4	+	46	6256	c.6203C>T	c.(6202-6204)gCg>gTg	p.A2068V	MYO7B_ENST00000409090.1_Missense_Mutation_p.A920V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A2067V|MYO7B_ENST00000428314.1_Missense_Mutation_p.A2067V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2067	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCACATGGCGCTGGGGAGC	0.642000													41	68					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139670	44139670	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr10:44139670T>C	ENST00000395797.1	-	3	838	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Y217C|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GGTACAGGCATAGGGCTTCAG	0.498000													10	48					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8609329	8609329	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:8609329C>G	ENST00000338257.8	-	14	1643	c.1376G>C	c.(1375-1377)aGc>aCc	p.S459T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCAAGACGCTCATGATGCC	0.672000													12	20					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61062455	61062455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:61062455delC	ENST00000335613.5	-	1	441	c.55delG	c.(55-57)cafs	p.A19fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	19						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGGCTGGTGCCCCCGGCAGC	0.786													2	4	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57523417	57523418	+	Frame_Shift_Ins	INS	-	-	TGGT			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:57523417_57523418insTGGT	ENST00000267811.5	+	9	951_952	c.647_648insTGGT	c.(646-648)cccfs	p.P216fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.P212fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.P216fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.P46fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.P27fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.P46fs|TCF12_ENST00000560764.1_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	216					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTCCTAAGCCACCAACCAGTA	0.361			T	TEC	extraskeletal myxoid chondrosarcoma								32	85	---	---	---	---					
ARHGAP44	9912	broad.mit.edu	37	17	12877480	12877480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:12877480delC	ENST00000379672.5	+	18	1916	c.1616delC	c.(1615-1617)gcfs	p.A539fs	ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.A533fs|ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.A539fs	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	539					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GTGTCCTGCGCCCCGCCCTCC	0.726													2	4	---	---	---	---					
CDK5RAP1	51654	broad.mit.edu	37	20	31958332	31958333	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:31958332_31958333insCC	ENST00000357886.4	-	12	1559_1560	c.1406_1407insGG	c.(1405-1407)gttfs	p.V469fs	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000339269.5_Frame_Shift_Ins_p.V378fs|CDK5RAP1_ENST00000452723.3_Frame_Shift_Ins_p.V365fs|CDK5RAP1_ENST00000346416.2_Frame_Shift_Ins_p.V455fs			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	469					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAAGAGGAAGCCCATGTTGTA	0.545													48	97	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937426	76937426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:76937426delA	ENST00000373344.5	-	9	3536	c.3322delT	c.(3322-3324)cafs	p.S1110fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1072fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1110					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)	TCAGATGATGAACAATCTTGT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						99	40	---	---	---	---