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
SYNM	23336	broad.mit.edu	37	15	99670214	99670214	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:99670214G>C	ENST00000336292.6	+	5	1766	c.1646G>C	c.(1645-1647)aGa>aCa	p.R549T	SYNM_ENST00000328642.7_Missense_Mutation_p.R549T|SYNM_ENST00000560674.1_Missense_Mutation_p.R264T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	550	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGGAAGCGAGACAGAGAGAA	0.463000													5	27					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224372	26224372	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:26224372C>A	ENST00000056233.3	+	4	1313	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	352					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TACCACCAATCCTGAGCAAAC	0.408000													35	125					6.50621e-10	6.8973e-10	1	1	0
FANCM	57697	broad.mit.edu	37	14	45644788	45644788	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:45644788C>G	ENST00000267430.5	+	14	2916	c.2831C>G	c.(2830-2832)tCt>tGt	p.S944C	FANCM_ENST00000542564.2_Missense_Mutation_p.S918C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	944					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTTTTAGATTCTGGTTATAAC	0.289000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				70	115					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798196	55798196	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55798196T>A	ENST00000313555.1	+	1	302	c.302T>A	c.(301-303)aTg>aAg	p.M101K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCACTACAAATGTTTTTCTTC	0.453000													22	83					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136934	46136934	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136934C>T	ENST00000362042.3	+	6	2866	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000536222.1_Silent_p.L594L|NFE2L1_ENST00000361665.3_Silent_p.L739L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000585291.1_Silent_p.L720L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	750					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCTCCTCATCCCCCGCA	0.647000													33	47					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338406	13338406	+	RNA	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:13338406A>G	ENST00000602906.1	+	0	424																				kidney(3)|lung(1)	4						TCTCATAAATAATTTGGGAAC	0.428000													27	81					0	0	1	0	0
HES6	55502	broad.mit.edu	37	2	239147933	239147933	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:239147933G>T	ENST00000409160.3	-	3	577	c.445C>A	c.(445-447)Cgc>Agc	p.R149S	HES6_ENST00000409002.3_Intron|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Intron|HES6_ENST00000272937.5_Intron|HES6_ENST00000409182.1_Intron|HES6_ENST00000409356.1_Intron	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGTCCCGCGCGGTGAGCGGCG	0.771000													5	11					4.096e-09	4.27217e-09	1	1	0
KCNK5	8645	broad.mit.edu	37	6	39161971	39161971	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:39161971G>T	ENST00000359534.3	-	4	946	c.608C>A	c.(607-609)aCc>aAc	p.T203N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	203					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGCCGATGGTGGAGATGGT	0.552000													15	64					4.14922e-12	4.44723e-12	1	1	0
CIITA	4261	broad.mit.edu	37	16	11010264	11010264	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:11010264G>T	ENST00000324288.8	+	15	3143	c.3010G>T	c.(3010-3012)Gtc>Ttc	p.V1004F	CIITA_ENST00000381835.5_Missense_Mutation_p.V420F	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1004					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGACGAGGGTGTCTCGCAGCT	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								6	23					0.00116845	0.0011868	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110516713	110516713	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:110516713T>C	ENST00000378402.5	+	68	11090	c.10986T>C	c.(10984-10986)ccT>ccC	p.P3662P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3662					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACATAGGCCTGATATAAGGT	0.303000										HNSCC(38;0.096)			11	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594238	179594238	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179594238G>A	ENST00000589042.1	-	64	18869	c.18645C>T	c.(18643-18645)gaC>gaT	p.D6215D	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D4971D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5898D|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5898	Ig-like 43.						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)			CCAGCTCCACGTCACTATATT	0.453000													55	63					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410327	233410327	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410327C>G	ENST00000389494.3	+	12	1476	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	CHRNG_ENST00000389492.3_Missense_Mutation_p.I433M	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	485					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGCTCTTCATCTGTGGCACAG	0.637000													39	32					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31576780	31576780	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:31576780G>C	ENST00000399332.1	-	37	7099	c.6611C>G	c.(6610-6612)tCt>tGt	p.S2204C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2204C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2204	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACGTGACGAGATTCATCATC	0.398000													40	54					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237461	56237461	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:56237461C>G	ENST00000312240.2	-	1	553	c.513G>C	c.(511-513)gaG>gaC	p.E171D		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATGGTTGATCTCAATTTTTC	0.403000													36	121					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106525	135106525	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:135106525G>A	ENST00000370695.4	+	12	1534	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	SLC9A6_ENST00000370701.1_Missense_Mutation_p.R448Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R468Q	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	468					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGGCCATTCGAGATACTGCC	0.453000													32	26					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097547	85097547	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:85097547G>A	ENST00000335459.5	-	2	676	c.471C>T	c.(469-471)gcC>gcT	p.A157A	TRABD2A_ENST00000409520.2_Silent_p.A157A|TRABD2A_ENST00000409133.1_Silent_p.A157A	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CCCAGTTTCCGGCAATAGCAT	0.562000													21	101					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176183	160176183	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:160176183C>G	ENST00000358372.4	+	8	2488	c.731C>G	c.(730-732)tCt>tGt	p.S244C	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	244					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAGCAGCAGTCTCAGGCCTCT	0.527000													14	33					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833595	61833595	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:61833595T>C	ENST00000280772.1	-	37	7235	c.7044A>G	c.(7042-7044)agA>agG	p.R2348R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2348					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGGTTTCTCTAATAATGA	0.383000													38	119					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861781	22861781	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:22861781C>A	ENST00000283645.4	+	14	1931	c.1801C>A	c.(1801-1803)Cag>Aag	p.Q601K	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q601K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	601					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAATCTGTACAGTCCCGTCT	0.388000													102	97					1.77486e-58	1.96756e-58	1	1	0
TMEM184B	25829	broad.mit.edu	37	22	38643838	38643838	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:38643838T>C	ENST00000361906.3	-	2	338	c.130A>G	c.(130-132)Act>Gct	p.T44A	TMEM184B_ENST00000361684.4_Missense_Mutation_p.T44A	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	44						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGAGCGGCAGTTGTCATCAGG	0.647000													3	12					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48414190	48414190	+	Silent	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:48414190C>G	ENST00000482911.2	+	2	299	c.258C>G	c.(256-258)gtC>gtG	p.V86V	SLC24A5_ENST00000341459.3_Silent_p.V86V|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	86					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATCTATTGTCTGTGATGAAT	0.443000													41	132					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92563016	92563016	+	Splice_Site	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:92563016A>G	ENST00000545170.1	-	2	258		c.e2+1		ATXN3_ENST00000532032.1_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3						cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TAAAATCAGTACCTGTAAAAA	0.433000													22	115					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159894346	159894346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:159894346G>C	ENST00000434826.2	-	2	266	c.182C>G	c.(181-183)tCa>tGa	p.S61*	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	61										large_intestine(2)|lung(3)	5						GCTTCTATTTGAGGCAGGCCT	0.388000													19	32					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152757123	152757123	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:152757123C>G	ENST00000367255.5	-	33	4864	c.4263G>C	c.(4261-4263)aaG>aaC	p.K1421N	SYNE1_ENST00000367253.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1421N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1411N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1421N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1421					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGATTGACTTGGCCTGCT	0.413000										HNSCC(10;0.0054)			25	101					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58827630	58827630	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:58827630T>C	ENST00000355431.3	+	19	2323	c.1950T>C	c.(1948-1950)gaT>gaC	p.D650D	ARID4A_ENST00000348476.3_Silent_p.D650D|ARID4A_ENST00000395168.3_Silent_p.D650D|ARID4A_ENST00000431317.2_Silent_p.D650D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	650					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAAAGAAGATAGTGAAAAGG	0.388000													48	51					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351857	65351857	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65351857A>G	ENST00000309295.4	+	10	3504	c.3239A>G	c.(3238-3240)tAc>tGc	p.Y1080C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1080	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CACCGATTCTACCCAGACAAG	0.607000													29	46					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542404	145542404	+	Silent	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:145542404G>C	ENST00000332324.4	-	5	699	c.426C>G	c.(424-426)gtC>gtG	p.V142V	DGAT1_ENST00000531896.1_Silent_p.V142V	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	142					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACAGCAAAGACATTGGCCG	0.627000													4	24					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51906049	51906049	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:51906049G>A	ENST00000371733.3	-	12	1106	c.1010C>T	c.(1009-1011)aCt>aTt	p.T337I	EPS15_ENST00000371730.2_Missense_Mutation_p.T337I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	337					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTGTTAAGAGTATCTAGTTC	0.348000			T	MLL	ALL								20	84					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795578	109795578	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:109795578G>T	ENST00000271332.3	+	1	2938	c.2877G>T	c.(2875-2877)caG>caT	p.Q959H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	959	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTATGTACCAGATTGTGGAGG	0.567000													13	181					4.3838e-07	4.52371e-07	1	1	0
PHF3	23469	broad.mit.edu	37	6	64421225	64421225	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:64421225A>G	ENST00000262043.3	+	15	4304	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	PHF3_ENST00000393387.1_Missense_Mutation_p.I1322V			Q92576	PHF3_HUMAN	PHD finger protein 3	1322					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAGATAAAATTCCACACCC	0.408000													22	66					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994657	140994657	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994657C>T	ENST00000285879.4	+	4	1753	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	489							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCCACTTTATTGA	0.493000										HNSCC(15;0.026)			34	94					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161127524	161127524	+	Missense_Mutation	SNP	T	T	A	rs1049571		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:161127524T>A	ENST00000308192.9	+	2	198	c.135T>A	c.(133-135)agT>agA	p.S45R	PLG_ENST00000366924.2_Missense_Mutation_p.S45R|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	45	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCAGGAAGTATAGAAGAAT	0.483000													49	136					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480964	140480964	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140480964A>G	ENST00000231130.2	+	1	731	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTTGCACAGCCGCTCTAT	0.507000													29	87					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324554	24324554	+	Nonstop_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:24324554G>C	ENST00000441335.2	+	6	811	c.632G>C	c.(631-633)tGa>tCa	p.*211S	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Intron			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	0	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATTTTCTTGATGATGTCTA	0.313000													13	25					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968905	5968905	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5968905G>T	ENST00000329564.6	+	1	336	c.329G>T	c.(328-330)tGt>tTt	p.C110F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATGAATTGTTTCCTAGCC	0.498000													56	160					3.28156e-27	3.59673e-27	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74154328	74154328	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:74154328C>T	ENST00000443185.2	-	3	1000	c.683G>A	c.(682-684)gGg>gAg	p.G228E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTGCCGGGCCCCTGCGCGGT	0.697000													5	11					0	0	1	0	0
TTC9B	148014	broad.mit.edu	37	19	40723998	40723998	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:40723998C>T	ENST00000311308.6	-	1	308	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	97							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ccccctgcgccgccTTCAGCT	0.756000													10	26					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481251	142481251	+	RNA	SNP	A	A	C	rs140137372	by1000genomes	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3																						CAATGACATCATGCTGATCAA	0.522000													3	39					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:66617203G>C	ENST00000393960.1	-	21	3307	c.3026C>G	c.(3025-3027)tCa>tGa	p.S1009*	PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Nonsense_Mutation_p.S1009*|PC_ENST00000393958.2_Nonsense_Mutation_p.S1009*|PC_ENST00000529047.1_Nonsense_Mutation_p.S129*	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1009					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622000													4	62					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53569074	53569074	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:53569074G>A	ENST00000371494.4	-	5	768	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	214						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCTGGTGCCCGGCTCTGACTT	0.637000													3	7					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794512	30794512	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:30794512G>A	ENST00000262525.4	-	3	1344	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGTCTTGCCGCACACTGGGC	0.657000													19	37					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222296	140222296	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140222296G>A	ENST00000531613.1	+	1	1390	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V464M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1												p.V464M(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTTCGTGAAGGAGAA	0.662000													28	89					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44844448	44844448	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:44844448T>G	ENST00000326047.4	+	14	1801	c.1652T>G	c.(1651-1653)tTc>tGc	p.F551C	KIF15_ENST00000425755.1_Missense_Mutation_p.F186C	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	551					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAAGCTTTCTCTGAAATA	0.388000													30	41					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207259	49207259	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:49207259C>A	ENST00000340334.7	-	7	1111	c.743G>T	c.(742-744)gGt>gTt	p.G248V	FOLH1_ENST00000256999.2_Missense_Mutation_p.G263V|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.G248V|FOLH1_ENST00000356696.3_Missense_Mutation_p.G263V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	263					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTCCTGCACCATTCAGATT	0.443000													16	39					1.67942e-08	1.74228e-08	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100182343	100182343	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:100182343C>G	ENST00000395996.1	+	16	2396	c.2285C>G	c.(2284-2286)tCt>tGt	p.S762C	VPS13B_ENST00000355155.1_Missense_Mutation_p.S762C|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.S762C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S762C			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	762					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTATTCCCTCTTTCAGCACT	0.378000													51	100					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230606	43230606	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43230606G>A	ENST00000259750.4	+	13	1587	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	TTBK1_ENST00000304139.5_Missense_Mutation_p.G451S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	502						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGTGGACACAGGCCACGCTGA	0.677000													7	16					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275382	152275382	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:152275382A>T	ENST00000368799.1	-	3	12015	c.11980T>A	c.(11980-11982)Tct>Act	p.S3994T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3994					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)			CCGTGCTGAGAGTGTCTAAAC	0.413000									Ichthyosis				4	180					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976119	120976119	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:120976119T>A	ENST00000273666.6	+	17	2042	c.1771T>A	c.(1771-1773)Tct>Act	p.S591T	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S591T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	591					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGGAGTCTTTCTGGGAGCAC	0.403000													28	184					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616203	248616203	+	Silent	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:248616203C>A	ENST00000342927.3	+	1	127	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532000													26	197					3.01185e-09	3.15837e-09	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50967652	50967652	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50967652A>G	ENST00000357701.5	+	27	3329	c.3278A>G	c.(3277-3279)aAg>aGg	p.K1093R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1093	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGATCCCAAGTTCCTGATA	0.557000													9	28					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886587	228886587	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:228886587C>T	ENST00000392056.3	-	6	583	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SPHKAP_ENST00000344657.5_Silent_p.L179L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	179						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGACCAATCAGAAATTTGT	0.458000													68	53					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47185796	47185796	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:47185796G>A	ENST00000378618.2	+	9	1026	c.974G>A	c.(973-975)aGa>aAa	p.R325K		NM_001003678.1	NP_001003678.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TGGGAGCCCAGAGAGTGAGGC	0.622000													5	24					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915979	127915979	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:127915979G>C	ENST00000451402.1	-	7	833	c.613C>G	c.(613-615)Cct>Gct	p.P205A	PPP6C_ENST00000373547.4_Missense_Mutation_p.P168A|PPP6C_ENST00000415905.1_Missense_Mutation_p.P146A|PPP6C_ENST00000373546.3_Missense_Mutation_p.P21A	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	168					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTGATATCAGGAGATAAACCA	0.373000													26	63					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219324528	219324528	+	Silent	SNP	C	C	G	rs148183468		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:219324528C>G	ENST00000258399.3	-	23	3040	c.2628G>C	c.(2626-2628)ctG>ctC	p.L876L	USP37_ENST00000418019.1_Silent_p.L876L|USP37_ENST00000454775.1_Silent_p.L876L|USP37_ENST00000415516.1_Silent_p.L782L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	876					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATTTCTTTTCAGTTCCTCAG	0.413000													40	60					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765455	5765455	+	Silent	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:5765455T>A	ENST00000414202.2	+	20	3074	c.2883T>A	c.(2881-2883)ctT>ctA	p.L961L	KIAA1432_ENST00000251879.6_Silent_p.L961L|KIAA1432_ENST00000381532.2_Silent_p.L882L|KIAA1432_ENST00000418622.3_Silent_p.L882L|KIAA1432_ENST00000449720.2_Silent_p.L845L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	961						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGCTACCCTTCTATTCAACA	0.418000													39	247					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572703	242572703	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:242572703G>A	ENST00000407315.1	-	2	1300	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	290							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGGTGTCGCGGTAAGTGATGA	0.657000													4	119					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104314951	104314951	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:104314951C>G	ENST00000389120.3	+	13	1907	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	606					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAGAGAGATTCTGCTAAGGAT	0.408000													16	70					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56501083	56501083	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:56501083G>A	ENST00000566157.1	+	7	787	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	222	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TCAGGTGTCTGAAGTGCTGTC	0.473000													35	153					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953918	195953918	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:195953918C>T	ENST00000296327.5	+	3	425	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAGGATGCCGTCTACCTGT	0.632000													17	89					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113721347	113721347	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:113721347G>A	ENST00000295878.3	-	12	2163	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	673										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAAGATCCGCCTACATTCA	0.328000													15	74					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714533	133714533	+	Silent	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:133714533T>A	ENST00000299140.3	-	3	192	c.138A>T	c.(136-138)acA>acT	p.T46T	SPATA19_ENST00000532889.1_Silent_p.T46T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	46					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CCTCTTCTTCTGTCTGAAAGG	0.488000													20	46					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417607	150417607	+	Missense_Mutation	SNP	G	G	A	rs142041443		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:150417607G>A	ENST00000307194.5	+	3	655	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGAGAACCGGGCCTTGCGC	0.652000													22	55					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101124216	101124216	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:101124216G>A	ENST00000356713.4	+	5	2360	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	CNNM1_ENST00000370534.4_Missense_Mutation_p.E326K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E620K|CNNM1_ENST00000446890.1_Missense_Mutation_p.E620K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	691					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCGCTTTGAAAATGGAGC	0.418000													6	16					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391076	89391076	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89391076G>A	ENST00000336596.2	+	5	1367	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H|EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	381	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.R381H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAAATGTCCGCTTCCTCCCT	0.483000										TSP Lung(6;0.00050)			54	83					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13446718	13446718	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:13446718G>A	ENST00000360228.5	-	7	983	c.984C>T	c.(982-984)aaC>aaT	p.N328N	CACNA1A_ENST00000573710.2_Silent_p.N328N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	328					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGAGGCATCGTTGCTCTGTA	0.532000													3	13					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900703	36900703	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:36900703C>A	ENST00000397224.4	-	3	731	c.638G>T	c.(637-639)gGc>gTc	p.G213V	FOXRED2_ENST00000216187.6_Missense_Mutation_p.G213V|FOXRED2_ENST00000397223.4_Missense_Mutation_p.G213V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	213					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACATTCTGGCCTACAAAGTC	0.547000													5	35					1	1	1	1	0
ZNF568	374900	broad.mit.edu	37	19	37440671	37440671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:37440671G>T	ENST00000415168.1	+	5	800	c.424G>T	c.(424-426)Gag>Tag	p.E142*	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.E206*|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGAGTAATGAGTTTGGGAA	0.368000													42	115					6.5261e-18	7.07298e-18	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													7	24					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590690	140590690	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140590690G>A	ENST00000239450.2	+	1	2400	c.2211G>A	c.(2209-2211)gtG>gtA	p.V737V	PCDHB12_ENST00000541609.1_Silent_p.V400V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		737					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACATCTGGTGGACGTGAGTG	0.607000													36	144					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960925	7960925	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:7960925A>C	ENST00000360759.3	-	1	216	c.143T>G	c.(142-144)aTc>aGc	p.I48S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAGGAGATGATGACTGTAAT	0.478000													27	110					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196678695	196678695	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:196678695C>T	ENST00000412723.1	-	2	354	c.208G>A	c.(208-210)Gca>Aca	p.A70T	PIGZ_ENST00000443835.1_Missense_Mutation_p.A70T	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	70					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GTTTTACCTGCCATCACCTCA	0.577000													18	23					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658913	46658913	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:46658913A>G	ENST00000544460.1	+	1	3302	c.3048A>G	c.(3046-3048)tcA>tcG	p.S1016S	TDRD6_ENST00000316081.6_Silent_p.S1016S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1016					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AACAGTTGTCATGTAGTATTA	0.348000													29	93					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83945885	83945885	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:83945885C>T	ENST00000262430.4	+	4	880	c.861C>T	c.(859-861)atC>atT	p.I287I	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	287					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CTGCTGCGATCTTTTATTCCA	0.507000													16	54					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497326	124497326	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:124497326C>T	ENST00000539644.1	+	6	2465	c.635C>T	c.(634-636)tCg>tTg	p.S212L	ZNF664_ENST00000392404.3_Missense_Mutation_p.S212L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S212L|ZNF664_ENST00000538932.2_Missense_Mutation_p.S212L|RP11-522N14.1_ENST00000540762.1_RNA			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AGTCAGAGTTCGAGCCTGTGC	0.527000													32	99					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101805037	101805037	+	RNA	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:101805037G>C	ENST00000360035.2	+	0	145					NR_002216.1															endometrium(2)|lung(8)	10						GGAGGTTAAGGGGGATCCTGA	0.537000													42	41					0	0	1	0	0
PRAC1	84366	broad.mit.edu	37	17	46799746	46799746	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46799746G>A	ENST00000290294.3	-	1	138	c.9C>T	c.(7-9)tgC>tgT	p.C3C		NM_032391.2	NP_115767.1	Q96KF2	PRAC_HUMAN		3						nucleus				kidney(1)|lung(2)	3						AGAAATGGGCGCACAACATCG	0.532000													4	86					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136577	46136577	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136577C>T	ENST00000362042.3	+	6	2509	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000536222.1_Silent_p.I475I|NFE2L1_ENST00000361665.3_Silent_p.I620I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000585291.1_Silent_p.I601I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	631					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAAATCATCAACCTGCCTG	0.552000													23	46					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11080535	11080535	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:11080535G>A	ENST00000240185.3	+	5	707	c.593G>A	c.(592-594)tGt>tAt	p.C198Y	TARDBP_ENST00000315091.3_Missense_Mutation_p.C198Y|TARDBP_ENST00000439080.2_Missense_Mutation_p.C82Y	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	198	RRM 1.|RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTGGGGCGCTGTACAGAGGAC	0.453000													29	104					0	0	1	0	0
BACE1	23621	broad.mit.edu	37	11	117186253	117186253	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:117186253T>C	ENST00000313005.6	-	1	719	c.259A>G	c.(259-261)Acg>Gcg	p.T87A	BACE1_ENST00000428381.2_Missense_Mutation_p.T87A|BACE1_ENST00000528053.1_Missense_Mutation_p.T87A|BACE1_ENST00000513780.1_Missense_Mutation_p.T87A|BACE1_ENST00000445823.2_Missense_Mutation_p.T87A|BACE1_ENST00000514464.1_5'UTR	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	87					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CACCTTACCGTCTGCGGGGGG	0.657000													6	17					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143793343	143793343	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:143793343C>G	ENST00000367591.4	+	8	688	c.625C>G	c.(625-627)Cta>Gta	p.L209V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	209					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGCAAAAACTAAAAGAAAT	0.338000													24	82					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994650	140994650	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994650C>T	ENST00000285879.4	+	4	1746	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCTCCTCCACT	0.478000										HNSCC(15;0.026)			26	91					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265656	38265656	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:38265656G>C	ENST00000373045.6	+	4	1536	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.E163D|MANEAL_ENST00000525897.1_Missense_Mutation_p.E191D|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	385						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTACTATGAGACGGCCCTGC	0.567000													24	64					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													5	26					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641758	106641758	+	RNA	SNP	A	A	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:106641758A>C	ENST00000390605.2	-	0	214																											CCCAGCTGATACCATAGCTGG	0.557000													139	202					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24882283	24882283	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24882283A>T	ENST00000382554.3	+	7	3041	c.2723A>T	c.(2722-2724)aAg>aTg	p.K908M	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	908					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AATAGTTCCAAGAAACTGATG	0.522000													6	7					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73406419	73406419	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:73406419G>A	ENST00000398809.4	+	14	1884	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P	CDH23_ENST00000398842.3_Silent_p.P498P|CDH23_ENST00000461841.3_Silent_p.P543P|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000224721.6_Intron	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCCAGGGCCGACTGTGGTGA	0.572000													41	103					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27669743	27669743	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:27669743C>T	ENST00000282344.6	-	4	824	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	190					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTACAGTTTCACAAGTAAGA	0.308000													7	58					0	0	1	0	0
RNF7	9616	broad.mit.edu	37	3	141457317	141457317	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:141457317T>A	ENST00000273480.3	+	1	272	c.134T>A	c.(133-135)gTg>gAg	p.V45E	RNF7_ENST00000393000.3_Missense_Mutation_p.V45E|RNF7_ENST00000480908.1_Missense_Mutation_p.V45E	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	45					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						AGCTGGGACGTGGAGTGCGAT	0.672000											OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394416	131394416	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:131394416A>T	ENST00000358161.5	+	52	6886	c.6773A>T	c.(6772-6774)cAg>cTg	p.Q2258L	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2258L|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2253L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2253					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGCAAGCACCAGGAAATCCGA	0.617000													4	16					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161309610	161309610	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161309610A>G	ENST00000428797.2	+	8	961	c.606A>G	c.(604-606)ccA>ccG	p.P202P	GABRA1_ENST00000437025.2_Silent_p.P202P|GABRA1_ENST00000393943.4_Silent_p.P202P|GABRA1_ENST00000444819.1_Silent_p.P202P|GABRA1_ENST00000023897.6_Silent_p.P202P|GABRA1_ENST00000420560.1_Silent_p.P202P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	202					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGAGAGCCAGCACGCTCAG	0.398000													23	60					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538076	52538076	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:52538076C>T	ENST00000594154.1	-	5	1068	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZNF432_ENST00000221315.5_Missense_Mutation_p.E286K			O94892	ZN432_HUMAN	zinc finger protein 432	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TAGGGTTTCTCTCCAGTATGA	0.383000													44	212					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525422	31525422	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:31525422C>T	ENST00000376148.4	+	3	466	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.L118F	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	118					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATTTCTTCCTCCCGCTGCT	0.587000													9	29					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033143	41033143	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr21:41033143C>T	ENST00000380620.3	+	5	1249	c.657C>T	c.(655-657)taC>taT	p.Y219Y	B3GALT5_ENST00000398714.2_Silent_p.Y219Y|B3GALT5_ENST00000380618.1_Silent_p.Y219Y|B3GALT5_ENST00000343118.4_Silent_p.Y219Y|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	219					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCACCGGCTACGTGTTTTCTG	0.522000													8	110					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591933	48591933	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:48591933C>A	ENST00000342988.3	+	9	1634	c.1096C>A	c.(1096-1098)Caa>Aaa	p.Q366K	SMAD4_ENST00000398417.2_Missense_Mutation_p.Q366K|SMAD4_ENST00000588745.1_Missense_Mutation_p.Q270K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	366	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q366*(3)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGTTTGGGTCAACTCTCCAA	0.413000													24	40					1.85244e-09	1.95312e-09	1	1	0
CHD6	84181	broad.mit.edu	37	20	40141541	40141541	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:40141541G>C	ENST00000373233.3	-	5	973	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	CHD6_ENST00000373222.3_Missense_Mutation_p.L301V|CHD6_ENST00000309279.7_Missense_Mutation_p.L266V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	266					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGCTCCAAGAACAGCAATT	0.517000													84	250					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44559294	44559294	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:44559294T>C	ENST00000591793.1	+	4	378	c.295T>C	c.(295-297)Tca>Cca	p.S99P	ZNF223_ENST00000585552.1_5'UTR|ZNF223_ENST00000434772.3_5'UTR|ZNF223_ENST00000588518.1_3'UTR			Q9UK11	ZN223_HUMAN	zinc finger protein 223	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ACTGTGTCATTCAGGACTCTG	0.453000													24	61					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58317454	58317454	+	Missense_Mutation	SNP	T	T	C	rs140764119		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:58317454T>C	ENST00000528954.1	-	6	786	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	218	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATCCAGGATGGGAGCAGCG	0.493000													28	82					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25666272	25666272	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:25666272T>A	ENST00000376436.1	-	3	720	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.I61F|ZNF337_ENST00000481610.1_5'UTR					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCGCCTGATGAGTTCTGGT	0.577000													27	108					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53237245	53237245	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:53237245T>C	ENST00000376352.2	+	18	1842	c.1635T>C	c.(1633-1635)tcT>tcC	p.S545S	STXBP4_ENST00000434978.2_Silent_p.S523S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	545						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGGATTGCTCTAGAGAACTCC	0.443000													30	49					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385113	65385113	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65385113C>T	ENST00000355703.3	+	5	1052	c.513C>T	c.(511-513)agC>agT	p.S171S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	171						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCAGGGCAGCAACAATGTGA	0.617000													10	20					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621152	41621152	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:41621152T>A	ENST00000373050.4	+	4	584	c.397T>A	c.(397-399)Tcg>Acg	p.S133T				Q99750	MDFI_HUMAN	MyoD family inhibitor	194					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CTCCTGCAGCTCGGAGGACTC	0.647000													24	109					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524737	161524737	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161524737A>G	ENST00000356592.3	+	4	881	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	GABRG2_ENST00000414552.2_Missense_Mutation_p.M141V|GABRG2_ENST00000361925.4_Missense_Mutation_p.M141V|GABRG2_ENST00000393933.4_Missense_Mutation_p.M46V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAACAGCAACATGGTGGGGAA	0.403000													32	83					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69350018	69350018	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:69350018C>T	ENST00000254950.11	+	2	285	c.129C>T	c.(127-129)atC>atT	p.I43I	RP11-343C2.3_ENST00000570054.2_Silent_p.I67I|VPS4A_ENST00000569775.1_3'UTR	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	43	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TCCACGCTATCAAGTGTGAGT	0.622000													16	58					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89457269	89457269	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89457269G>T	ENST00000336596.2	+	9	1975	c.1750G>T	c.(1750-1752)Ggc>Tgc	p.G584C	EPHA3_ENST00000494014.1_Missense_Mutation_p.G584C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	584						extracellular region|integral to plasma membrane	ATP binding	p.G584S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACTTCATTTTGGCAATGGGCA	0.358000										TSP Lung(6;0.00050)			34	166					1.836e-18	2.00104e-18	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													7	51					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1131854	1131854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:1131854C>T	ENST00000397092.1	+	3	1374	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	GPER_ENST00000397088.3_Missense_Mutation_p.R164C|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.R164C|GPER_ENST00000297469.3_Missense_Mutation_p.R164C	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		164						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CAGGGCCATGCGCTGCAGCCT	0.627000													10	56					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761592	55761592	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55761592G>T	ENST00000278409.1	-	1	509	c.510C>A	c.(508-510)gaC>gaA	p.D170E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGACATTGGAGTCACAGAATG	0.473000													22	75					2.39556e-15	2.58189e-15	1	1	0
IDS	3423	broad.mit.edu	37	X	148582533	148582533	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:148582533T>A	ENST00000340855.6	-	4	663	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	IDS_ENST00000370443.4_Missense_Mutation_p.S152C|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.S152C|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	152						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGACCAGCTATACGGAGAA	0.388000													23	29					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17479642	17479642	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:17479642T>C	ENST00000377873.3	-	6	818	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	BFSP1_ENST00000544874.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y135C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	260	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCATCGTCATAACACTCATG	0.478000													38	105					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066188	40066188	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:40066188G>A	ENST00000336649.4	+	28	4358	c.4358G>A	c.(4357-4359)cGg>cAg	p.R1453Q	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1412Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1447					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAAGAGGCACGGCGGCGTGAG	0.627000													40	115					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485538	59485538	+	Missense_Mutation	SNP	G	G	A	rs147014278		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:59485538G>A	ENST00000240328.3	+	7	2091	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	604					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						cgcagccgccgGCTCCCTCTC	0.697000													11	30					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468506	86468506	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:86468506T>G	ENST00000361669.2	+	4	2775	c.1676T>G	c.(1675-1677)cTa>cGa	p.L559R	GRM3_ENST00000536043.1_Missense_Mutation_p.L431R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.L151R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	559					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTGCAGACCTAACTGGATGC	0.532000													31	92					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													8	60					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720095	160720095	+	Splice_Site	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:160720095T>C	ENST00000368043.3	+	4	688	c.649_splice	c.e4-1	p.G217_splice	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.G110_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.G217_splice|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	217					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTCTGAAGGTGCTGCTGATG	0.552000													51	164					0	0	1	0	0
RP11-542C16.2	0	broad.mit.edu	37	17	7220820	7220820	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7220820G>A	ENST00000575474.1	-	6	718	c.719C>T	c.(718-720)cCg>cTg	p.P240L	NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1402A|NEURL4_ENST00000399464.2_Silent_p.A1426A|NEURL4_ENST00000315614.7_Silent_p.A1424A																							TCCGTACAGCGGCAACATTGC	0.602000													25	29					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498000													30	138					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96637143	96637143	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:96637143G>A	ENST00000518156.2	+	2	1060	c.630_splice	c.e2+1	p.Q210_splice	DLX6_ENST00000007660.5_Splice_Site_p.Q182_splice|DLX6_ENST00000555308.1_Splice_Site_p.Q82_splice|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	92					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CACAAACACAGGTAATTCCCG	0.527000													4	15					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566448	100566448	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:100566448G>A	ENST00000471714.1	-	19	1776	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P507L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	507	Pro-rich.					extracellular space		p.P556Q(1)|p.P508L(1)|p.P508Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTATTACCCGGTGTTGTCCA	0.373000													85	117					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700120	36700120	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:36700120G>C	ENST00000255448.4	-	2	366	c.155C>G	c.(154-156)tCc>tGc	p.S52C	DCLK1_ENST00000379892.4_Missense_Mutation_p.S52C|DCLK1_ENST00000360631.3_Missense_Mutation_p.S52C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582000													14	28					0	0	1	0	0
HSPBP1	23640	broad.mit.edu	37	19	55776657	55776657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:55776657C>A	ENST00000255631.5	-	8	1304	c.994G>T	c.(994-996)Gag>Tag	p.E332*	HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E230*|HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E332*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	335					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGTACTCCTCATGCTGCTGC	0.667000													30	123					4.31634e-10	4.60093e-10	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21083735	21083735	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:21083735T>C	ENST00000255882.6	-	39	4634	c.4548A>G	c.(4546-4548)gaA>gaG	p.E1516E	PI4KA_ENST00000572273.1_Silent_p.E1458E|PI4KA_ENST00000414196.3_Silent_p.E268E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1458					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGTCTAGTTCCAGTTCCG	0.552000													10	31					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086485	144086485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:144086485C>G	ENST00000427704.2	+	6	879	c.749C>G	c.(748-750)tCa>tGa	p.S250*	PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.S238*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.S170*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.S261*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.S181*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	250							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCAAAGCTTCAAAGGAGACA	0.478000													37	118					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43909353	43909353	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:43909353G>A	ENST00000562955.1	+	61	8540	c.8540G>A	c.(8539-8541)cGt>cAt	p.R2847H	SZT2_ENST00000372442.1_Missense_Mutation_p.R2005H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2904						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGGGAGCCCGTGAGGAGCCT	0.602000													39	115					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57952011	57952011	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:57952011G>A	ENST00000325752.3	-	6	1100	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	TUBD1_ENST00000394239.3_Missense_Mutation_p.R275C|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.R275C|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59C	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	275					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GGAATGTTACGAACACTCAGC	0.368000													5	306					0	0	1	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887862	32887862	+	RNA	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:32887862G>A	ENST00000399070.3	+	0	2256					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GATTATTGATGAGTATGAAAA	0.383000													8	43					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56437563	56437563	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:56437563T>C	ENST00000370754.5	-	52	13442	c.13443A>G	c.(13441-13443)gaA>gaG	p.E4481E	DST_ENST00000421834.2_Silent_p.E2215E|DST_ENST00000244364.6_Silent_p.E1889E|DST_ENST00000370788.2_Silent_p.E2215E|DST_ENST00000370769.4_Silent_p.E4303E|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.E3977E|DST_ENST00000361203.3_Silent_p.E4301E			Q03001	DYST_HUMAN	dystonin	4301					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGACAATTCAGTAACAT	0.378000													12	20					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70916787	70916787	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:70916787C>T	ENST00000393567.2	-	60	10141	c.9991G>A	c.(9991-9993)Gaa>Aaa	p.E3331K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3331										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCATTGTTTTCGGTCACGAAG	0.512000													17	51					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359723	16359723	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:16359723G>C	ENST00000375692.1	+	20	2113	c.1985G>C	c.(1984-1986)aGa>aCa	p.R662T	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R662T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R620T|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R663T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	663	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCGCGGGGCAGAGCTGTGGGC	0.607000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	163					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127292391	127292391	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:127292391G>A	ENST00000355552.3	-	11	1471	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	TPRA1_ENST00000489960.1_Silent_p.S365S|TPRA1_ENST00000450633.2_Silent_p.S365S|TPRA1_ENST00000296210.7_3'UTR	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	365					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGCGCTCGCTGTCTGTGC	0.657000													16	70					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213068340	213068340	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:213068340C>A	ENST00000366971.4	+	9	1736	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	513					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTAATCAAGTCTGATCTGCGA	0.299000													56	243					2.18419e-29	2.40758e-29	1	1	0
CASC1	55259	broad.mit.edu	37	12	25264751	25264751	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:25264751G>C	ENST00000354189.5	-	14	1943	c.1908C>G	c.(1906-1908)atC>atG	p.I636M	CASC1_ENST00000545133.1_Missense_Mutation_p.I513M|CASC1_ENST00000537577.1_Missense_Mutation_p.I460M|CASC1_ENST00000395987.3_Missense_Mutation_p.I578M|CASC1_ENST00000395990.2_Missense_Mutation_p.I532M|CASC1_ENST00000320267.9_Missense_Mutation_p.I572M	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	572										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAGTAGGAAAGATATTCAGTC	0.318000													27	58					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075711	66075711	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:66075711C>T	ENST00000349533.6	+	13	2019	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	LEPR_ENST00000344610.8_Missense_Mutation_p.R612C|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.R612C|LEPR_ENST00000371060.3_Missense_Mutation_p.R612C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R612C	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	612	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTCAGGTGCGCTGTAAGAG	0.413000													4	186					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610489	47610489	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:47610489T>C	ENST00000371890.3	+	7	811	c.775T>C	c.(775-777)Tca>Cca	p.S259P	CYP4A22_ENST00000371891.3_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA			Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	0						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTGGTGTTCAGGATGGAA	0.592000													3	21					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268538	1268538	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1268538G>A	ENST00000447027.1	+	31	10495	c.10437G>A	c.(10435-10437)tcG>tcA	p.S3479S	MUC5B_ENST00000529681.1_Silent_p.S3476S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCTCGGGCATCTTGG	0.667000													9	100					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410351	233410351	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410351C>T	ENST00000389494.3	+	12	1500	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CHRNG_ENST00000389492.3_Silent_p.L441L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	493					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCATCTTCCTCATGGCCCACT	0.627000													46	30					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176942237	176942237	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:176942237C>G	ENST00000507955.1	-	7	1117	c.594G>C	c.(592-594)aaG>aaC	p.K198N	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	198					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATGCCTTTCTTCTTCAGGC	0.532000													32	101					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109086	21109086	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21109086A>G	ENST00000320704.3	-	1	764	c.765T>C	c.(763-765)taT>taC	p.Y255Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGGCACTTCCATAGAAGAGGG	0.517000													36	61					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50882024	50882024	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50882024C>T	ENST00000542413.1	+	10	1470	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	NR1H2_ENST00000411902.2_Missense_Mutation_p.R143C|NR1H2_ENST00000253727.5_Missense_Mutation_p.R240C|NR1H2_ENST00000593926.1_Missense_Mutation_p.R240C|NR1H2_ENST00000599105.1_Missense_Mutation_p.R240C|NR1H2_ENST00000598168.1_Missense_Mutation_p.R240C			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	240					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTGCAACAAACGCTCCTTCTC	0.617000													12	52					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18699354	18699354	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:18699354G>A	ENST00000433979.1	+	25	3571	c.3455G>A	c.(3454-3456)aGt>aAt	p.S1152N	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1152N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1193N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1152	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAGCAACAAGTCATTTTACC	0.423000													9	16					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269173	1269173	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1269173G>A	ENST00000447027.1	+	31	11130	c.11072G>A	c.(11071-11073)gGg>gAg	p.G3691E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G3688E|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3688	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAACTCCGGGGACGACCTGG	0.617000													77	237					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969588	200969588	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:200969588C>T	ENST00000332129.2	-	11	1931	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	KIF21B_ENST00000422435.2_Missense_Mutation_p.E539K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E539K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E539K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	539					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGATCACCTCCGAGGCATCC	0.677000													35	112					0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397615	75397615	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:75397615C>T	ENST00000359322.4	-	3	503	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	47					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GACAGTTCCTCCAACATCACA	0.493000													55	155					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91180280	91180280	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:91180280C>T	ENST00000370445.4	-	2	700	c.659G>A	c.(658-660)aGt>aAt	p.S220N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	220						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACGGCTACTCGTAATCTC	0.552000													44	139					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897628	153897628	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153897628G>A	ENST00000511601.1	+	12	3373	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1062					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCATCACTCGGACAGTGTCG	0.657000													9	73					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152524	43152524	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43152524C>G	ENST00000252050.4	+	2	560	c.476C>G	c.(475-477)aCt>aGt	p.T159S	CUL9_ENST00000354495.3_Missense_Mutation_p.T159S|CUL9_ENST00000372647.2_Missense_Mutation_p.T159S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	159					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGCCCCTCACTGGTGTCTTC	0.622000													19	49					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994457	140994457	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994457A>C	ENST00000285879.4	+	4	1553	c.1267A>C	c.(1267-1269)Att>Ctt	p.I423L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	423							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATTGAGTATTTTACAGAG	0.463000										HNSCC(15;0.026)			25	79					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511286	195511286	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:195511286C>T	ENST00000463781.3	-	2	7624	c.7165G>A	c.(7165-7167)Gac>Aac	p.D2389N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2389N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGCGTCGGTGACAGGA	0.597000													3	11					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21709177	21709177	+	Missense_Mutation	SNP	C	C	T	rs145435704	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:21709177C>T	ENST00000388958.3	+	9	822	c.821C>T	c.(820-822)aCg>aTg	p.T274M	OTOA_ENST00000388956.4_Missense_Mutation_p.T195M|OTOA_ENST00000286149.4_Missense_Mutation_p.T274M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAAGAAATTACGAAAATTAGT	0.353000													19	107					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571389	86571389	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:86571389T>A	ENST00000376344.3	-	1	243	c.27A>T	c.(25-27)gaA>gaT	p.E9D	C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	9										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTAGAGGATTCCCTGGGAT	0.612000													12	44					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94184852	94184852	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:94184852A>G	ENST00000297273.4	+	18	2463	c.2176A>G	c.(2176-2178)Atc>Gtc	p.I726V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	726						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACAAGGGGTATCTTGGTACT	0.373000													31	87					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170208	90170208	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:90170208G>C	ENST00000333209.3	-	2	1572	c.1054C>G	c.(1054-1056)Cat>Gat	p.H352D		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	352										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTTCAAAATGCTCAGGAGCA	0.587000													17	73					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217224	49217224	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:49217224G>C	ENST00000318083.6	-	8	865	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A	MAMSTR_ENST00000377367.3_Missense_Mutation_p.P100A|MAMSTR_ENST00000594582.1_Missense_Mutation_p.P100A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P165A|MAMSTR_ENST00000356751.4_Missense_Mutation_p.P165A			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	268	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						gccggagtgggagttggagcc	0.682000													14	52					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859772	46859772	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:46859772G>A	ENST00000262738.3	-	2	4014	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1339	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGATGGGCCGGAAGAGCACG	0.662000													8	34					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153271277	153271277	+	Splice_Site	SNP	C	C	G	rs13146842		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153271277C>G	ENST00000281708.4	-	3	1731		c.e3-1		FBXW7_ENST00000296555.5_Splice_Site|FBXW7_ENST00000603841.1_Splice_Site|FBXW7_ENST00000603548.1_Splice_Site|FBXW7_ENST00000263981.5_Splice_Site	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTCTTTTCATCTATAAGGTAA	0.289000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								11	29					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	881268	881268	+	Silent	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:881268C>G	ENST00000323510.4	-	6	707	c.708G>C	c.(706-708)ggG>ggC	p.G236G	BRD9_ENST00000435709.2_Intron|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Silent_p.G216G|BRD9_ENST00000483173.1_Silent_p.G279G|BRD9_ENST00000467963.1_Silent_p.G332G			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	332							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGAGCAGGCTCCCGTCCCCGT	0.602000													5	27					0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16563017	16563017	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:16563017G>A	ENST00000298943.3	-	1	987	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	16						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCGACGTGCCGGCCGAGCTCA	0.731000													4	13					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325920	114325920	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:114325920C>T	ENST00000335678.6	+	3	1166	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	312	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCACCAGAGGCGGATCGTCTA	0.552000													7	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479225	179479225	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179479225C>T	ENST00000589042.1	-	261	49240	c.49016G>A	c.(49015-49017)cGg>cAg	p.R16339Q	TTN_ENST00000342175.6_Missense_Mutation_p.R7466Q|TTN_ENST00000359218.5_Missense_Mutation_p.R7399Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13771Q|TTN_ENST00000460472.2_Missense_Mutation_p.R7274Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14698Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14698	Ig-like 100.						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)			AGCAGTGGCCCGGCCACACAC	0.398000													13	35					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969087	93969087	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:93969087G>A	ENST00000369303.4	-	10	2093	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	637	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAATCACACGCTCAATTTTA	0.428000													27	94					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35986097	35986097	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:35986097C>T	ENST00000349699.2	-	8	1023	c.980G>A	c.(979-981)gGc>gAc	p.G327D	DDX52_ENST00000394367.3_Missense_Mutation_p.G219D	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	327	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCCAGTTTTGCCATCTTCAAA	0.423000													4	114					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68765185	68765185	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:68765185C>G	ENST00000303795.4	+	7	1157	c.986C>G	c.(985-987)tCg>tGg	p.S329W	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	329					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAAATTGTTCGAGTGCCCAG	0.428000													17	61					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363939	5363939	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5363939G>A	ENST00000300773.2	-	1	870	c.816C>T	c.(814-816)ctC>ctT	p.L272L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTCATAATGAGGTGAACAA	0.393000													14	58					0	0	1	0	0
MIR219A1	407002	broad.mit.edu	37	6	33175619	33175619	+	RNA	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:33175619G>A	ENST00000362166.1	+	0	8					NR_029633.1																						TCCCCGCCCCGGGCCGCGGCT	0.647000													3	10					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8719531	8719531	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:8719531G>A	ENST00000381920.3	+	2	267	c.9G>A	c.(7-9)caG>caA	p.Q3Q	METTL22_ENST00000561758.1_Silent_p.Q3Q	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	3							methyltransferase activity			large_intestine(5)|lung(4)	9						CCATGGTACAGCTGGCTCCTG	0.572000													14	54					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409647	79409647	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:79409647C>T	ENST00000307745.7	+	9	1272	c.1272C>T	c.(1270-1272)caC>caT	p.H424H																								AGGACCGGCACCTGGAGGGAA	0.711000													6	19					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76120670	76120670	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:76120670C>T	ENST00000590602.1	-	8	985	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TMC6_ENST00000306591.7_Missense_Mutation_p.A276T|TMC6_ENST00000392467.3_Missense_Mutation_p.A276T|TMC6_ENST00000322914.3_Missense_Mutation_p.A276T|TMC6_ENST00000589553.1_Missense_Mutation_p.A49T|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	276				QVAF -> PRVR (in Ref. 6; AAH35648).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTGGGAAGGCGACCTGAGGG	0.672000													6	25					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20971160	20971162	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:20971160_20971162delGAA	ENST00000321556.4	+	4	1048_1050	c.954_956delGAA	c.(952-957)atg>at	p.MK318del	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	318	Protein kinase.		M -> L.		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCGTTATGAAGAAGTAAGTG	0.626													11	41	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													4	4	---	---	---	---					
LEF1	51176	broad.mit.edu	37	4	108985490	108985500	+	Splice_Site	DEL	ACCTGATGCAG	ACCTGATGCAG	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:108985490_108985500delACCTGATGCAG	ENST00000379951.2	-	9	2261_2270	c.1081_splice	c.e9+1	p.358_splice	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000265165.1_Splice_Site_p.386_splice|LEF1_ENST00000510624.1_Splice_Site_p.290_splice|LEF1_ENST00000438313.2_Splice_Site_p.358_splice	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	386					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAGATTCCTGTAG	0.431													8	108	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119659453	119659465	+	Frame_Shift_Del	DEL	TAACATGCCAACA	TAACATGCCAACA	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:119659453_119659465delTAACATGCCAACA	ENST00000379735.5	-	19	2721_2733	c.2450_2462delTGTTGGCATGTTA	c.(2449-2463)acfs	p.MLACY817fs	SEC24D_ENST00000280551.6_Frame_Shift_Del_p.MLACY816fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Frame_Shift_Del_p.MLACY372fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.MLACY447fs|SEC24D_ENST00000429811.2_Frame_Shift_Del_p.MLACY372fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	816					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATTCTTCCGGTAACATGCCAACATATGGGCAGT	0.423													19	98	---	---	---	---					
GFM2	84340	broad.mit.edu	37	5	74026194	74026195	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:74026194_74026195insT	ENST00000296805.3	-	17	2073_2074	c.1616_1617insA	c.(1615-1617)catfs	p.H539fs	GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Frame_Shift_Ins_p.H492fs|GFM2_ENST00000509430.1_Frame_Shift_Ins_p.H539fs	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	539					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAATCTCTATATGTAACTCCCC	0.386													18	72	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													7	66	---	---	---	---					
VWA7	80737	broad.mit.edu	37	6	31736896	31736897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:31736896_31736897insT	ENST00000375686.3	-	10	1638_1639	c.1401_1402insA	c.(1399-1404)ccacaafs	p.Q468fs	VWA7_ENST00000447450.1_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000375688.4_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	468						extracellular region											ACTGCTTTGTATGGCTCAAAAC	0.550													13	57	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													10	90	---	---	---	---					
RNF146	81847	broad.mit.edu	37	6	127608113	127608116	+	Frame_Shift_Del	DEL	GAGC	GAGC	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:127608113_127608116delGAGC	ENST00000368314.1	+	3	779_782	c.355_358delGAGC	c.(355-360)gcfs	p.ER119fs	RNF146_ENST00000356799.2_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000309649.3_Frame_Shift_Del_p.ER118fs	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	119	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCAGTACGATGAGCGCACTAGTAG	0.426													21	105	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102874213	102874214	+	RNA	INS	-	-	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:102874213_102874214insA	ENST00000312132.4	-	0	3031																											TTTGGCAGTTTAAAAAAACCCA	0.312													9	11	---	---	---	---					
IMPAD1	54928	broad.mit.edu	37	8	57892606	57892625	+	Frame_Shift_Del	DEL	GTGTAGCATCAAGTGGGTCA	GTGTAGCATCAAGTGGGTCA	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:57892606_57892625delGTGTAGCATCAAGTGGGTCA	ENST00000262644.4	-	2	777_796	c.519_538delTGACCCACTTGATGCTACAC	c.(517-540)atagfs	p.IDPLDATQ173fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	173						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTATATTCCTGTGTAGCATCAAGTGGGTCAATCCAGACAG	0.391													9	86	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21861798	21861799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21861798_21861799insG	ENST00000399982.2	-	31	6219_6220	c.6155_6156insC	c.(6154-6156)cctfs	p.P2052fs	CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1773fs|CHD8_ENST00000557364.1_Frame_Shift_Ins_p.P2052fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2052					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGAAACCAGAGGGGTAGTATC	0.530													13	52	---	---	---	---					
GMPR2	51292	broad.mit.edu	37	14	24704944	24704945	+	Splice_Site	DEL	TC	TC	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24704944_24704945delTC	ENST00000557854.1	+	3	540_541	c.261_splice	c.e3-1	p.F88_splice	GMPR2_ENST00000348719.7_Splice_Site_p.F70_splice|GMPR2_ENST00000559104.1_Splice_Site_p.F88_splice|GMPR2_ENST00000399440.2_Splice_Site_p.F70_splice|GMPR2_ENST00000559910.1_Splice_Site_p.F70_splice|GMPR2_ENST00000559836.1_Splice_Site_p.F70_splice|GMPR2_ENST00000420554.2_Splice_Site_p.F88_splice|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000355299.4_Splice_Site_p.F70_splice			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	70					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TCTCCCCAGTTCTCTCTCTTCA	0.446													25	148	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													10	40	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7577568delC	ENST00000420246.2	-	7	845	c.713delG	c.(712-714)ttfs	p.C238fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			24	46	---	---	---	---					
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	RNA	DEL	T	T	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279													3	6	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67304439	67304440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:67304439_67304440insA	ENST00000392676.3	-	5	603_604	c.539_540insT	c.(538-540)agafs	p.R180fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.R180fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.R180fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	180					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGGCAGCATCTATGGATGCTTG	0.342													45	217	---	---	---	---					
MYO5B	4645	broad.mit.edu	37	18	47479679	47479679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:47479679delT	ENST00000285039.7	-	14	2002	c.1703delA	c.(1702-1704)acfs	p.N568fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	568	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGTGTCTCTGTTTTTCTCCAG	0.512													41	61	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	2	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994638	140994640	+	In_Frame_Del	DEL	GCT	GCT	-	rs144357389	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994638_140994640delGCT	ENST00000285879.4	+	4	1734_1736	c.1448_1450delGCT	c.(1447-1452)acc>a	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGTGAGCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			10	100	---	---	---	---					
