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
LANCL2	55915	broad.mit.edu	37	7	55459492	55459492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:55459492C>G	ENST00000254770.2	+	2	789	c.211C>G	c.(211-213)Cat>Gat	p.H71D		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	71					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.H71D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCAGATCATTCATAATTTCAT	0.363000													12	27					0	0	0.013537	0	0
MAATS1	89876	broad.mit.edu	37	3	119451310	119451310	+	Silent	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:119451310C>G	ENST00000273390.5	+	9	1265	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1									p.L396L(1)									ACTACTATCTCAACACCTATG	0.323000													9	19					0	0	0.004482	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176752109	176752109	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:176752109C>A	ENST00000430069.1	-	13	1386	c.1127G>T	c.(1126-1128)tGg>tTg	p.W376L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.W376L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	376					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.W376L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTTCATACTCCATATCTAAAC	0.269000													6	13					0.00116845	0.00128529	0.001168	1	0
CXorf21	80231	broad.mit.edu	37	X	30577604	30577604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:30577604C>T	ENST00000378962.3	-	3	1191	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	290								p.S290N(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATATGGAGACTAGGAGTGCT	0.368000													12	74					0	0	0.013537	0	0
GK5	256356	broad.mit.edu	37	3	141889249	141889249	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:141889249G>A	ENST00000392993.2	-	15	1510	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	453					glycerol metabolic process		ATP binding|glycerol kinase activity	p.D453D(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CATTAATCAGGTCTGAAGTCA	0.408000													4	64					0	0	0.009096	0	0
ZNF415	55786	broad.mit.edu	37	19	53612598	53612598	+	Missense_Mutation	SNP	G	G	A	rs150561707	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:53612598G>A	ENST00000455735.2	-	7	1164	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R221C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R234C|ZNF415_ENST00000500065.4_Missense_Mutation_p.R234C|ZNF415_ENST00000601493.1_Missense_Mutation_p.R4C|ZNF415_ENST00000421033.1_Missense_Mutation_p.R246C|ZNF415_ENST00000448501.1_Missense_Mutation_p.R282C|ZNF415_ENST00000597503.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.R234C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTACCTGACGTACAGTCATG	0.398000													30	67					0	0	0.007291	0	0
FAT1	2195	broad.mit.edu	37	4	187549807	187549807	+	Silent	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549807G>T	ENST00000441802.2	-	8	4643	c.4434C>A	c.(4432-4434)atC>atA	p.I1478I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1478	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.I1478I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCACAGCACTGATTTGCAAAA	0.398000										HNSCC(5;0.00058)			20	25					4.96729e-08	5.68258e-08	0.008871	1	0
LPHN2	23266	broad.mit.edu	37	1	82451025	82451025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:82451025C>G	ENST00000370728.1	+	23	4127	c.3482C>G	c.(3481-3483)tCa>tGa	p.S1161*	LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S1086*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S1161*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S1163*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S1148*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S1161*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S1176*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S1163*			O95490	LPHN2_HUMAN	latrophilin 2	1161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S1176*(1)|p.S1148*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATAGCACTTCAACACTTAAT	0.289000													4	13					0	0	0.009096	0	0
IPO8	10526	broad.mit.edu	37	12	30814158	30814158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:30814158C>T	ENST00000256079.4	-	16	2136	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	IPO8_ENST00000544829.1_Missense_Mutation_p.E395K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	600					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.E600K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTCAACTTCTTCATATTCA	0.338000													9	25					0	0	0.004482	0	0
RPTOR	57521	broad.mit.edu	37	17	78936369	78936369	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:78936369G>C	ENST00000306801.3	+	32	4163	c.3801G>C	c.(3799-3801)ctG>ctC	p.L1267L	RPTOR_ENST00000544334.2_Silent_p.L1109L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1267					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.L1267L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGGCGGACCTGATCGCATGGT	0.642000													11	43					0	0	0.010729	0	0
RPAP1	26015	broad.mit.edu	37	15	41823249	41823249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823249C>G	ENST00000304330.4	-	7	1031	c.915G>C	c.(913-915)aaG>aaC	p.K305N	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Missense_Mutation_p.K305N	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	305						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.K305N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTGTCTCTCTTCCTGGGCT	0.557000													51	133					0	0	0.014410	0	0
SCAF4	57466	broad.mit.edu	37	21	33076226	33076226	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr21:33076226T>A	ENST00000286835.7	-	4	555	c.173A>T	c.(172-174)tAc>tTc	p.Y58F	SCAF4_ENST00000434667.3_Missense_Mutation_p.Y43F|SCAF4_ENST00000399804.1_Missense_Mutation_p.Y58F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	58	CID.					nucleus	nucleotide binding|RNA binding	p.Y58F(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CGGAACCTTGTATTCTGGTTT	0.348000													3	44					0	0	0.004672	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452381	26452381	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:26452381C>T	ENST00000244519.2	+	11	1740	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	BTN3A3_ENST00000361232.3_Silent_p.F450F|BTN3A3_ENST00000339789.4_Silent_p.F457F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	499	B30.2/SPRY.					integral to membrane		p.F499F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCCTGTTTTCAGAATTTTGA	0.478000													5	124					0	0	0.001168	0	0
SRRM2	23524	broad.mit.edu	37	16	2813372	2813372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:2813372G>A	ENST00000301740.8	+	11	3392	c.2843G>A	c.(2842-2844)cGg>cAg	p.R948Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	948	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R948Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACAACTCCACGGCGAAGCAGA	0.483000													4	86					0	0	0.009096	0	0
HIP1R	9026	broad.mit.edu	37	12	123340550	123340550	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:123340550G>A	ENST00000253083.4	+	14	1277	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	384					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.L384L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TCGCGCAGCTGAAGAGCCAGG	0.692000													4	9					0	0	0.009096	0	0
HCN3	57657	broad.mit.edu	37	1	155252454	155252454	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155252454C>T	ENST00000368358.3	+	2	539	c.531C>T	c.(529-531)ctC>ctT	p.L177L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	177						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L177L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTTGACCTCATCTCTTCTA	0.607000													12	70					0	0	0.001855	0	0
MCM4	4173	broad.mit.edu	37	8	48874100	48874100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:48874100C>G	ENST00000262105.2	+	2	304	c.95C>G	c.(94-96)tCt>tGt	p.S32C	MCM4_ENST00000523944.1_Missense_Mutation_p.S32C	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	32					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.S32C(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCCAGGTCATCTCCCTCTCAG	0.577000													16	37					0	0	0.007413	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572968	32572968	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr9:32572968G>C	ENST00000379847.3	-	1	192	c.91C>G	c.(91-93)Cgg>Ggg	p.R31G	NDUFB6_ENST00000350021.2_Missense_Mutation_p.R31G	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	31					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.R31G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	ACCGGCTCCCGAGGGCTCAGC	0.562000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	0.004672	0	0
GSAP	54103	broad.mit.edu	37	7	77010667	77010667	+	Silent	SNP	A	A	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:77010667A>G	ENST00000257626.7	-	8	609	c.531T>C	c.(529-531)atT>atC	p.I177I		NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.I177I(1)									GAAATTGTTCAATATCTTTAA	0.289000													5	24					0	0	0.001984	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203256	1203256	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:1203256C>T	ENST00000349431.6	-	2	336	c.117G>A	c.(115-117)tcG>tcA	p.S39S	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000360466.2_Silent_p.S39S|UBE2J2_ENST00000400930.4_Silent_p.S39S|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000491779.1_Intron	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAGAATATTCGAAGGGAGGG	0.637000													15	205					0	0	0.002450	0	0
MAPK8	5599	broad.mit.edu	37	10	49634089	49634089	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49634089G>C	ENST00000374189.1	+	8	1028	c.847G>C	c.(847-849)Gac>Cac	p.D283H	MAPK8_ENST00000360332.3_Missense_Mutation_p.D283H|MAPK8_ENST00000395611.3_Missense_Mutation_p.D207H|MAPK8_ENST00000374182.3_Missense_Mutation_p.D283H			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	283	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	p.D283H(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTTCCCAGCTGACTCAGAACA	0.378000													4	61					0	0	0.001168	0	0
NUMB	8650	broad.mit.edu	37	14	73743889	73743889	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:73743889G>C	ENST00000556772.1	-	7	3208	c.921C>G	c.(919-921)gtC>gtG	p.V307V	NUMB_ENST00000557597.1_Silent_p.V440V|NUMB_ENST00000560335.1_Silent_p.V305V|NUMB_ENST00000359560.3_Silent_p.V440V|NUMB_ENST00000454166.4_Silent_p.V305V|NUMB_ENST00000559312.1_Silent_p.V256V|NUMB_ENST00000555738.2_Silent_p.V294V|NUMB_ENST00000555394.1_Silent_p.V403V|NUMB_ENST00000554546.1_Silent_p.V392V|NUMB_ENST00000555238.1_Silent_p.V451V|NUMB_ENST00000356296.4_Silent_p.V403V|NUMB_ENST00000554521.2_Silent_p.V245V|NUMB_ENST00000535282.1_Silent_p.V440V|NUMB_ENST00000544991.3_Silent_p.V256V|NUMB_ENST00000355058.3_Silent_p.V451V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	451					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.V451V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTGAGCCCGGACGCTCTTAG	0.607000													8	28					0	0	0.004482	0	0
FARP1	10160	broad.mit.edu	37	13	99064179	99064179	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr13:99064179G>C	ENST00000376586.2	+	16	2053	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	FARP1_ENST00000319562.6_Missense_Mutation_p.E573Q|FARP1_ENST00000595437.1_Missense_Mutation_p.E573Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	573	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.E573Q(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTGAGCAAAGAGGACGCCAT	0.433000													3	143					0	0	0.004672	0	0
HNRNPU	3192	broad.mit.edu	37	1	245017797	245017797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245017797C>G	ENST00000444376.2	-	14	2610	c.2376G>C	c.(2374-2376)tgG>tgC	p.W792C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.W811C|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	811	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.W811C(1)|p.W792C(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCTTCTGACCCCAGAATTGCT	0.328000													10	38					0	0	0.001855	0	0
GANAB	23193	broad.mit.edu	37	11	62393547	62393547	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:62393547G>A	ENST00000346178.4	-	24	2796	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	GANAB_ENST00000534779.1_Silent_p.L813L|GANAB_ENST00000540933.1_Silent_p.L808L|GANAB_ENST00000356638.3_Silent_p.L905L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	905					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.L905L(1)|p.L905>?(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTTTTGTCTGGAGTACCACAG	0.557000													11	355					0	0	0.010729	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748219	19748219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr13:19748219G>C	ENST00000400113.3	-	5	1241	c.1137C>G	c.(1135-1137)agC>agG	p.S379R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	379					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.S379R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGTGGTGTTGCTCAGCATGC	0.622000													20	64					0	0	0.012319	0	0
ATP13A2	23400	broad.mit.edu	37	1	17316492	17316492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:17316492C>G	ENST00000452699.1	-	22	2593	c.2404G>C	c.(2404-2406)Gac>Cac	p.D802H	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.D807H|ATP13A2_ENST00000341676.5_Intron	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	807					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.D807H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCAGCCTGGTCAGGATCCTGG	0.647000													7	17					0	0	0.001984	0	0
PKNOX2	63876	broad.mit.edu	37	11	125281675	125281675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:125281675G>A	ENST00000298282.9	+	10	1121	c.850G>A	c.(850-852)Gag>Aag	p.E284K	PKNOX2_ENST00000542175.1_Missense_Mutation_p.E220K|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.E284K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCTGGACAATGAGGATAAGAA	0.527000													15	44					0	0	0.002450	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361016	105361016	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:105361016G>A	ENST00000297581.2	+	2	285	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R79Q|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	79					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.R79Q(1)									AAGCATGCACGATGTTTTATT	0.522000													17	65					0	0	0.004007	0	0
MYOC	4653	broad.mit.edu	37	1	171621749	171621749	+	Translation_Start_Site	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:171621749C>T	ENST00000037502.6	-	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response						anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.M1I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGAAGAACCTCATTGCAGAGG	0.612000													7	18					0	0	0.003080	0	0
UTRN	7402	broad.mit.edu	37	6	144803379	144803379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:144803379G>A	ENST00000367545.3	+	26	3542	c.3542G>A	c.(3541-3543)aGa>aAa	p.R1181K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1181					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R1181K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGGAGGTGAGAGTGAAGATT	0.453000													9	33					0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38888407	38888407	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:38888407C>G	ENST00000302328.3	-	26	5352	c.5154G>C	c.(5152-5154)aaG>aaC	p.K1718N	SCN11A_ENST00000456224.3_Missense_Mutation_p.K1680N|SCN11A_ENST00000450244.1_Missense_Mutation_p.K1718N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1718					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1718N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATACAACTTCTTGAGAGGAT	0.448000													35	145					0	0	0.004878	0	0
IMPDH2	3615	broad.mit.edu	37	3	49064436	49064436	+	Silent	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:49064436G>T	ENST00000326739.4	-	6	615	c.576C>A	c.(574-576)atC>atA	p.I192I		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	192	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	p.I192I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCTTCAGTGTGATGCCTGCAG	0.502000													7	292					0.00307968	0.00336179	0.003080	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427903	134427903	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:134427903A>T	ENST00000370766.3	-	3	2873	c.164T>A	c.(163-165)tTc>tAc	p.F55Y	ZNF75D_ENST00000370764.1_Missense_Mutation_p.F55Y|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F55Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGATAACGGAAGCTCCAGAA	0.478000													34	82					0	0	0.010818	0	0
AOX1	316	broad.mit.edu	37	2	201515748	201515748	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:201515748G>A	ENST00000374700.2	+	26	3140	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	967					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.E967K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTACAAACAAGAGATCAATGC	0.418000													13	79					0	0	0.003163	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697274	48697274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:48697274G>A	ENST00000236495.5	+	7	793	c.743G>A	c.(742-744)gGa>gAa	p.G248E	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G244E|SLC5A9_ENST00000438567.2_Missense_Mutation_p.G223E	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	223						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.G241E(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTAGGGGGAGCCCTGGTC	0.537000													9	23					0	0	0.004482	0	0
MAPK8	5599	broad.mit.edu	37	10	49633981	49633981	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49633981G>C	ENST00000374189.1	+	8	920	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	MAPK8_ENST00000360332.3_Missense_Mutation_p.E247Q|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.E247Q			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	247	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	p.E247Q(2)|p.E247*(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACCATGTCCTGAATTCATGAA	0.343000													7	45					0	0	0.004482	0	0
SREBF1	6720	broad.mit.edu	37	17	17723649	17723649	+	Missense_Mutation	SNP	G	G	A	rs149599437		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:17723649G>A	ENST00000355815.4	-	3	537	c.368C>T	c.(367-369)gCg>gTg	p.A123V	SREBF1_ENST00000338854.5_Missense_Mutation_p.A93V|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.A93V|SREBF1_ENST00000435530.2_Missense_Mutation_p.A93V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	93	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	p.A123V(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGTGAGGGCGCTGCCTGCGG	0.637000													28	59					0	0	0.006320	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													5	41					0	0	0.000602	0	0
ZNF710	374655	broad.mit.edu	37	15	90611183	90611183	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90611183G>C	ENST00000268154.4	+	2	1065	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D272H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCCCAGCTGGATCGGCTGGA	0.632000													19	74					0	0	0.010504	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													5	87					0	0	0.000602	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098330	13098330	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:13098330C>T	ENST00000399002.2	+	8	1384	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	370					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.T370T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCACATTCACCAAAAGTTTTG	0.542000													13	81					0	0	0.013537	0	0
CTNND2	1501	broad.mit.edu	37	5	11346575	11346575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:11346575C>T	ENST00000304623.8	-	9	1726	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	CTNND2_ENST00000503622.1_Missense_Mutation_p.E176K|CTNND2_ENST00000359640.2_Missense_Mutation_p.E513K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.E422K|CTNND2_ENST00000458100.2_Missense_Mutation_p.E80K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	513					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.E513K(1)|p.E513*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TATGGAGACTCAACAGAGGGA	0.607000													26	96					0	0	0.009535	0	0
MRPS35	60488	broad.mit.edu	37	12	27877118	27877118	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:27877118G>C	ENST00000081029.3	+	5	592	c.521G>C	c.(520-522)aGa>aCa	p.R174T	MRPS35_ENST00000538315.1_Splice_Site_p.R174T	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	174					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		p.R174T(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTAGTCTTAAGAGTAAGAGTT	0.353000													6	31					0	0	0.004482	0	0
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:23887584G>A	ENST00000355349.3	-	30	4166	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657000													13	29					0	0	0.003163	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:26273432G>C	ENST00000377733.2	+	1	289	c.229G>C	c.(229-231)Gag>Cag	p.E77Q		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587000													4	154					0	0	0.009096	0	0
RYR2	6262	broad.mit.edu	37	1	237881784	237881784	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:237881784G>A	ENST00000366574.2	+	73	10834	c.10517G>A	c.(10516-10518)cGa>cAa	p.R3506Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R3504Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R3490Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAAGTACGAGATATAATC	0.333000													9	17					0	0	0.004482	0	0
DAAM1	23002	broad.mit.edu	37	14	59819340	59819340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:59819340G>C	ENST00000395125.1	+	18	2310	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q	DAAM1_ENST00000360909.3_Missense_Mutation_p.E753Q|DAAM1_ENST00000351081.1_Missense_Mutation_p.E763Q|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	763	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.E763Q(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTTCCTTTTTGAGATGAGCCG	0.403000													8	18					0	0	0.004482	0	0
MBNL1	4154	broad.mit.edu	37	3	152018007	152018007	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:152018007C>T	ENST00000282486.6	+	2	1867	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	MBNL1_ENST00000485509.1_Missense_Mutation_p.R9W|MBNL1_ENST00000485910.1_Missense_Mutation_p.R9W|MBNL1_ENST00000324196.5_Missense_Mutation_p.R9W|MBNL1_ENST00000355460.2_Missense_Mutation_p.R9W|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.R9W|MBNL1_ENST00000324210.5_Missense_Mutation_p.R9W|MBNL1_ENST00000545754.1_Missense_Mutation_p.R9W|MBNL1_ENST00000282488.7_Missense_Mutation_p.R9W|MBNL1_ENST00000492948.1_Missense_Mutation_p.R9W|MBNL1_ENST00000498502.1_Missense_Mutation_p.R9W|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000463374.1_Missense_Mutation_p.R9W			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	9					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	p.R9W(6)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACACCAATTCGGGACACAAA	0.438000													14	49					0	0	0.004007	0	0
ATL3	25923	broad.mit.edu	37	11	63403040	63403040	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:63403040C>G	ENST00000398868.3	-	10	1277	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A	ATL3_ENST00000332645.4_Missense_Mutation_p.G361A|ATL3_ENST00000538786.1_Missense_Mutation_p.G316A	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	334					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.G334A(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CAGATCTTCTCCTTGATAAAT	0.303000											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	50					0	0	0.004672	0	0
ACACA	31	broad.mit.edu	37	17	35445914	35445914	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:35445914G>C	ENST00000353139.5	-	55	7468	c.6987C>G	c.(6985-6987)atC>atG	p.I2329M	ACACA_ENST00000361253.5_Missense_Mutation_p.I418M|ACACA_ENST00000335166.5_Missense_Mutation_p.I2214M|ACACA_ENST00000360679.3_Missense_Mutation_p.I2234M|ACACA_ENST00000394406.2_Missense_Mutation_p.I2292M	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2292					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.I2329M(1)|p.I2234M(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGATGCATTTGATGTTTTCCT	0.463000													10	221					0	0	0.006214	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32098165	32098165	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:32098165G>A	ENST00000375250.5	-	15	2272	c.2031C>T	c.(2029-2031)gtC>gtT	p.V677V	ARHGAP12_ENST00000311380.4_Silent_p.V655V|ARHGAP12_ENST00000375245.4_Silent_p.V655V|ARHGAP12_ENST00000344936.2_Silent_p.V707V|ARHGAP12_ENST00000396144.4_Silent_p.V702V|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	707	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V707V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TACCATGATTGACTGCAAACC	0.343000													4	33					0	0	0.009096	0	0
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:2737188G>A	ENST00000455372.2	-	2	273	c.68C>T	c.(67-69)tCc>tTc	p.S23F	AC006538.4_ENST00000586572.1_Missense_Mutation_p.S23F|SLC39A3_ENST00000545664.1_Missense_Mutation_p.S23F|SLC39A3_ENST00000269740.4_Missense_Mutation_p.S23F	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	23						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	p.S23F(1)|p.S23C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547000													3	22					0	0	0.009096	0	0
FAT1	2195	broad.mit.edu	37	4	187549509	187549509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549509G>A	ENST00000441802.2	-	9	4818	c.4609C>T	c.(4609-4611)Caa>Taa	p.Q1537*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1537	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Q1537*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCACATCTTGATCTCGTACC	0.458000										HNSCC(5;0.00058)			7	9					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446475	25446475	+	RNA	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:25446475G>A	ENST00000424208.1	+	0	1988				SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1																						GGGTTGGGTCGATGATGAGAA	0.502000													7	212					0	0	0.004482	0	0
NUP98	4928	broad.mit.edu	37	11	3716747	3716747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:3716747G>A	ENST00000324932.7	-	26	4519	c.4099C>T	c.(4099-4101)Cag>Tag	p.Q1367*	NUP98_ENST00000355260.3_Nonsense_Mutation_p.Q1367*|NUP98_ENST00000359171.4_Nonsense_Mutation_p.Q1367*|NUP98_ENST00000488828.1_5'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1384					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.Q1367*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCTTGGAGCTGATGCCAGTCC	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	164					0	0	0.009096	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930642	144930642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:144930642G>C	ENST00000529945.1	-	1	1506	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.S356*|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1941					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S356*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGCAGGTCTGAAAGCTCCAA	0.478000			T	PDGFRB	MPD								5	117					0	0	0.000602	0	0
C11orf30	56946	broad.mit.edu	37	11	76175124	76175124	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:76175124G>A	ENST00000529032.1	+	6	831	c.831G>A	c.(829-831)aaG>aaA	p.K277K	C11orf30_ENST00000533248.1_Splice_Site_p.K291K|C11orf30_ENST00000525038.1_Splice_Site_p.K292K|C11orf30_ENST00000343878.3_Splice_Site_p.K277K|C11orf30_ENST00000334736.3_Splice_Site_p.K277K|C11orf30_ENST00000524490.1_Splice_Site_p.K278K|C11orf30_ENST00000524767.1_Splice_Site_p.K292K|C11orf30_ENST00000525919.1_Splice_Site_p.K278K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	277	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K277K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAACACAGAAGGTATGTGGTG	0.423000													9	30					0	0	0.008291	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218697	47218697	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:47218697G>A	ENST00000300404.2	+	2	342	c.283G>A	c.(283-285)Gca>Aca	p.A95T	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A9T|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A35T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	95					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.A95T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTTCCTTCAAGCAGTGTTCAG	0.507000													34	119					0	0	0.003271	0	0
LSM7	51690	broad.mit.edu	37	19	2328414	2328414	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:2328414G>C	ENST00000252622.10	-	2	122	c.69C>G	c.(67-69)atC>atG	p.I23M		NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)						nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	p.I23M(2)		kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTTACCCGGATCGTCTTGT	0.527000													6	38					0	0	0.001168	0	0
SETD5	55209	broad.mit.edu	37	3	9483388	9483388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:9483388C>T	ENST00000402466.1	+	10	1396	c.628C>T	c.(628-630)Cga>Tga	p.R210*	SETD5_ENST00000407969.1_Nonsense_Mutation_p.R327*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.R308*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.R210*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.R308*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	308								p.R210*(1)|p.R308*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGTCATGTTACGACAGCAATT	0.443000													14	80					0	0	0.004007	0	0
KCNN1	3780	broad.mit.edu	37	19	18085055	18085055	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:18085055G>A	ENST00000222249.9	+	3	677	c.358G>A	c.(358-360)Gtc>Atc	p.V120I		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	p.V137I(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGGCATCGTCGTCATGGTGAC	0.642000													3	37					0	0	0.004672	0	0
GANAB	23193	broad.mit.edu	37	11	62393546	62393546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:62393546G>A	ENST00000346178.4	-	24	2797	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*	GANAB_ENST00000534779.1_Nonsense_Mutation_p.Q814*|GANAB_ENST00000540933.1_Nonsense_Mutation_p.Q809*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.Q906*	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	906					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.L905>?(1)|p.Q906*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CCTTTTGTCTGGAGTACCACA	0.552000													11	356					0	0	0.010729	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228731	204228731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:204228731C>G	ENST00000272203.3	-	8	978	c.662G>C	c.(661-663)aGa>aCa	p.R221T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R241T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	221	Pro-rich.							p.R221T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCAGGCCTTCTCTCTGCCTT	0.637000													14	56					0	0	0.004007	0	0
HEXA	3073	broad.mit.edu	37	15	72645501	72645501	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:72645501C>T	ENST00000268097.5	-	5	981	c.478G>A	c.(478-480)Gag>Aag	p.E160K	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.E160K|HEXA_ENST00000566304.1_Missense_Mutation_p.E171K|HEXA_ENST00000429918.2_Intron	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	160					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.E160K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTCAATCTCAGTCTTGTTG	0.488000													5	19					0	0	0.000602	0	0
WIZ	58525	broad.mit.edu	37	19	15536463	15536463	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:15536463C>T	ENST00000389282.4	-	7	3982	c.3769G>A	c.(3769-3771)Gag>Aag	p.E1257K	WIZ_ENST00000545156.1_Missense_Mutation_p.E571K|WIZ_ENST00000599686.3_Missense_Mutation_p.E441K|WIZ_ENST00000599910.2_Missense_Mutation_p.E574K|WIZ_ENST00000263381.7_Missense_Mutation_p.E400K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1257						nucleus	zinc ion binding	p.E571K(1)|p.E1257K(1)|p.E400K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACGGACCACTCGGTCACACCC	0.612000													6	32					0	0	0.001168	0	0
RETSAT	54884	broad.mit.edu	37	2	85577947	85577947	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:85577947G>C	ENST00000295802.4	-	3	665	c.553C>G	c.(553-555)Cca>Gca	p.P185A	RETSAT_ENST00000263854.6_Missense_Mutation_p.P185A|RETSAT_ENST00000457495.2_Missense_Mutation_p.P124A	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	185					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.P185A(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCCTCCTGTGGAAACTTCTCC	0.468000													6	152					0	0	0.001168	0	0
ZNF276	92822	broad.mit.edu	37	16	89788955	89788955	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:89788955C>T	ENST00000443381.2	+	2	319	c.222C>T	c.(220-222)ctC>ctT	p.L74L	ZNF276_ENST00000568064.1_5'UTR|ZNF276_ENST00000289816.5_5'UTR|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L74L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCGGGCTCTCGCCATGGGTC	0.662000													6	53					0	0	0.001168	0	0
RUSC1	23623	broad.mit.edu	37	1	155292388	155292388	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155292388C>G	ENST00000368352.5	+	2	975	c.824C>G	c.(823-825)tCt>tGt	p.S275C	RUSC1_ENST00000368354.3_Missense_Mutation_p.S275C|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	275						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.S275C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AAATTCGACTCTGGTTGGAAA	0.428000													8	142					0	0	0.003080	0	0
RPAP1	26015	broad.mit.edu	37	15	41823378	41823378	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823378C>G	ENST00000304330.4	-	7	902	c.786G>C	c.(784-786)ttG>ttC	p.L262F	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Missense_Mutation_p.L262F	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	262						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L262F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGTGAGATCTCAAGAAAGCAA	0.567000													40	163					0	0	0.010771	0	0
MUC16	94025	broad.mit.edu	37	19	9048660	9048660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:9048660G>C	ENST00000397910.4	-	5	33174	c.32971C>G	c.(32971-32973)Ctg>Gtg	p.L10991V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10993	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L10991V(1)|p.L6624V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGCAACCAGAGAGGTCACC	0.512000													7	66					0	0	0.001984	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599223	136599223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:136599223G>A	ENST00000531224.1	-	4	1048	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q266*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q266*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q264*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	266					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.Q266*(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGACTATGCTGAATGGAATGT	0.448000													5	38					0	0	0.000602	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643066	1643066	+	Silent	SNP	A	A	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:1643066A>G	ENST00000399682.1	-	1	302	c.258T>C	c.(256-258)ggT>ggC	p.G86G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	86	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G86G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAAG	0.667000													4	87					0	0	0.001984	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785018	90785018	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90785018G>A	ENST00000558017.1	+	4	1298	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R293Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	293					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	p.R293Q(1)									TTTGTCACCCGGGGAGCTCCG	0.557000													10	68					0	0	0.008291	0	0
CNTLN	54875	broad.mit.edu	37	9	17464544	17464544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr9:17464544G>C	ENST00000380647.3	+	21	3538	c.3454G>C	c.(3454-3456)Gac>Cac	p.D1152H	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1152H|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1152H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1152						centriole|membrane	two-component sensor activity	p.D1152H(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTGATAGAGGACTTGAAATT	0.294000													5	20					0	0	0.001168	0	0
POLA1	5422	broad.mit.edu	37	X	24759577	24759577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:24759577C>G	ENST00000379068.3	+	21	2345	c.2302C>G	c.(2302-2304)Ctt>Gtt	p.L768V	POLA1_ENST00000379059.3_Missense_Mutation_p.L762V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	762					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.L762V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GCTAAATGTTCTTCCATTAGC	0.383000													3	109					0	0	0.004672	0	0
TRIL	9865	broad.mit.edu	37	7	28997432	28997432	+	RNA	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:28997432G>A	ENST00000322982.3	-	0	502				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GGTGGAAGTCGAAGGCCGTGA	0.637000													17	34					0	0	0.004990	0	0
VCAN	1462	broad.mit.edu	37	5	82868358	82868358	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:82868358T>G	ENST00000265077.3	+	13	10424	c.9859T>G	c.(9859-9861)Tat>Gat	p.Y3287D	VCAN_ENST00000502527.2_Missense_Mutation_p.Y546D|VCAN_ENST00000342785.4_Missense_Mutation_p.Y1533D|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.Y1485D|VCAN_ENST00000343200.5_Missense_Mutation_p.Y2300D|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3287	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.Y3287D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATCTCACCTATACGTGCAA	0.383000													12	47					0	0	0.013537	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080466	70080466	+	RNA	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:70080466C>G	ENST00000505646.1	+	0	630																											TCATTCTTTTCCAGTCACTGT	0.358000													11	48					0	0	0.008291	0	0
ACTA2	59	broad.mit.edu	37	10	90697972	90697972	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:90697972G>T	ENST00000458208.1	-	8	1310	c.836C>A	c.(835-837)aCc>aAc	p.T279N	ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.T279N|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	279					response to virus	cytosol	ATP binding	p.T279N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTTGTAGGTGGTTTCATGGAT	0.493000													12	86					9.31168e-06	1.03222e-05	0.001855	1	0
ALCAM	214	broad.mit.edu	37	3	105243325	105243325	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:105243325G>A	ENST00000306107.5	+	3	867	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.E72K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E123K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	123					cell adhesion|signal transduction	integral to membrane	receptor binding	p.E123K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAACGTGTTTGAGGCACCTAC	0.418000													21	64					0	0	0.012319	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043044	102043044	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:102043044G>C	ENST00000549145.1	+	14	1267	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	MYBPC1_ENST00000392934.3_Missense_Mutation_p.K363N|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K362N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K376N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.K376N|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K376N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K376N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K376N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K401N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K357N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K350N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K364N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K401N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K277N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K376N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	376	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.K376N(1)|p.K401N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAGGTTTAAGAATGGTGAAG	0.343000													10	36					0	0	0.006214	0	0
F12	2161	broad.mit.edu	37	5	176833003	176833003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:176833003G>A	ENST00000253496.3	-	3	223	c.175C>T	c.(175-177)Cac>Tac	p.H59Y		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	59	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	p.H59Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACATTTGTGGTACAGCTGC	0.607000									Hereditary Angioedema				32	112					0	0	0.004289	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962899	73962899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:73962899G>C	ENST00000055682.6	-	3	2104	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S498*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACCCTCTAGTGAGTCAACATC	0.438000													11	22					0	0	0.008291	0	0
MYOM1	8736	broad.mit.edu	37	18	3090701	3090701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr18:3090701C>G	ENST00000400569.3	-	27	4297	c.3964G>C	c.(3964-3966)Gat>Cat	p.D1322H	MYOM1_ENST00000356443.4_Missense_Mutation_p.D1322H|MYOM1_ENST00000261606.7_Missense_Mutation_p.D1226H			P52179	MYOM1_HUMAN	myomesin 1	1322						striated muscle myosin thick filament	structural constituent of muscle	p.D1322H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTTTCCATCTTGAAGCTGG	0.413000													28	61					0	0	0.005443	0	0
PYGO1	26108	broad.mit.edu	37	15	55839115	55839115	+	Nonsense_Mutation	SNP	G	G	T	rs149582531		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:55839115G>T	ENST00000302000.6	-	3	460	c.366C>A	c.(364-366)taC>taA	p.Y122*	PYGO1_ENST00000563719.1_Nonsense_Mutation_p.Y122*	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	122	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding	p.Y122*(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCCTGAGTGAGTAAGGACCAC	0.473000													16	55					6.31663e-08	7.16887e-08	0.003163	1	0
LRRC47	57470	broad.mit.edu	37	1	3703763	3703763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:3703763C>A	ENST00000378251.1	-	2	754	c.727G>T	c.(727-729)Gag>Tag	p.E243*		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	243					translation		phenylalanine-tRNA ligase activity|RNA binding	p.E243*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACCATCTTCTCCAGGCGCTTG	0.632000													16	47					6.94344e-10	8.00736e-10	0.006122	1	0
RFC1	5981	broad.mit.edu	37	4	39290425	39290425	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:39290425C>G	ENST00000381897.1	-	25	3536	c.3403G>C	c.(3403-3405)Gat>Cat	p.D1135H	RFC1_ENST00000349703.2_Missense_Mutation_p.D1134H	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1135					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.D1135H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCTCCTTATCTTTTTCTGGT	0.363000													17	50					0	0	0.006122	0	0
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:65161533G>A	ENST00000317568.5	+	5	540	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	FRMD8_ENST00000355991.5_Missense_Mutation_p.R70Q|FRMD8_ENST00000416776.2_Missense_Mutation_p.R92Q	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM.					cytoskeleton	binding	p.R126Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGCAGTTCCGAAGGAACGTG	0.672000													11	30					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	21					0	0	0.004482	0	0
RNF169	254225	broad.mit.edu	37	11	74547657	74547657	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:74547657G>A	ENST00000299563.4	+	6	2022	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	670							zinc ion binding	p.R670Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGAAGACCGACAGTTGGCT	0.552000													13	57					0	0	0.001855	0	0
EVC2	132884	broad.mit.edu	37	4	5633669	5633669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:5633669C>T	ENST00000310917.2	-	11	2052	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	EVC2_ENST00000344938.1_Missense_Mutation_p.D521N|EVC2_ENST00000344408.5_Missense_Mutation_p.D521N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	521						integral to membrane		p.E520delE(1)|p.D521N(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTGGCAAAGTCTTCTTCTTGT	0.468000													5	89					0	0	0.000602	0	0
C17orf53	78995	broad.mit.edu	37	17	42225570	42225570	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42225570C>T	ENST00000319977.4	+	3	636	c.399C>T	c.(397-399)gcC>gcT	p.A133A	C17orf53_ENST00000585683.1_Silent_p.A133A|C17orf53_ENST00000245382.6_Silent_p.A133A	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	133								p.A133A(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTCCTCAGCCTTACACCCCC	0.517000													7	173					0	0	0.004482	0	0
RPAP1	26015	broad.mit.edu	37	15	41822071	41822071	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41822071C>G	ENST00000304330.4	-	8	1166	c.1050G>C	c.(1048-1050)caG>caC	p.Q350H	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Missense_Mutation_p.Q350H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	350						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.Q350H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTCCTGTGTCTGCTGCCGCC	0.607000													7	23					0	0	0.001984	0	0
SGK223	157285	broad.mit.edu	37	8	8185504	8185504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:8185504C>T	ENST00000520004.1	-	5	3052	c.2788G>A	c.(2788-2790)Ggg>Agg	p.G930R	SGK223_ENST00000330777.4_Missense_Mutation_p.G930R			Q86YV5	SG223_HUMAN		930							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G930R(1)|p.G932R(1)									TGGGTGCTCCCGGTGGAGGCT	0.677000													14	47					0	0	0.003163	0	0
MET	4233	broad.mit.edu	37	7	116409705	116409705	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:116409705G>A	ENST00000397752.3	+	12	2790	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	MET_ENST00000318493.6_Missense_Mutation_p.D882N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	864					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.D882N(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGGAAATGATATTGACCC	0.358000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				14	42					0	0	0.001855	0	0
IRAK4	51135	broad.mit.edu	37	12	44166804	44166804	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:44166804G>C	ENST00000431837.1	+	4	516	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	IRAK4_ENST00000440781.2_Missense_Mutation_p.E70Q|IRAK4_ENST00000448290.2_Missense_Mutation_p.E194Q|IRAK4_ENST00000551736.1_Missense_Mutation_p.E194Q	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	194	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E194Q(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAAAATGGGAGAGGGAGGATT	0.338000													9	30					0	0	0.006214	0	0
ORC3	23595	broad.mit.edu	37	6	88317511	88317511	+	Missense_Mutation	SNP	C	C	T	rs149324991	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:88317511C>T	ENST00000392844.3	+	6	596	c.548C>T	c.(547-549)tCa>tTa	p.S183L	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.S183L|ORC3_ENST00000546266.1_Missense_Mutation_p.S40L|ORC3_ENST00000417380.2_Missense_Mutation_p.S130L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	183					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.S183L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TCAATGGATTCACTTTCCAGT	0.373000													23	65					0	0	0.003330	0	0
ATM	472	broad.mit.edu	37	11	108115627	108115627	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:108115627C>T	ENST00000278616.4	+	7	1160	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	ATM_ENST00000452508.2_Missense_Mutation_p.L259F	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	259					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L259F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGATGAAATTCTTCCCACTTT	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	67					0	0	0.009096	0	0
SHCBP1	79801	broad.mit.edu	37	16	46650007	46650007	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:46650007G>A	ENST00000303383.3	-	4	713	c.447C>T	c.(445-447)ctC>ctT	p.L149L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	149								p.L149L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAGAGTCACAGAGGTATGGTT	0.468000													13	57					0	0	0.002450	0	0
LRRC41	10489	broad.mit.edu	37	1	46763283	46763283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:46763283C>T	ENST00000343304.6	-	3	594	c.309G>A	c.(307-309)tgG>tgA	p.W103*	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	103								p.W103*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAGTCGGCGCCAGATGGCCT	0.458000													11	43					0	0	0.010729	0	0
CDK1	983	broad.mit.edu	37	10	62553724	62553724	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:62553724G>A	ENST00000448257.2	+	8	1086	c.885G>A	c.(883-885)aaG>aaA	p.K295K	CDK1_ENST00000373809.2_Silent_p.K238K|CDK1_ENST00000395284.3_Silent_p.K295K|CDK1_ENST00000316629.4_Silent_p.K238K			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	295					activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	p.K295K(1)		ovary(1)	1						ATCAGATTAAGAAGATGTAGC	0.294000													7	34					0	0	0.004482	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88888374	88888374	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:88888374G>A	ENST00000303236.3	-	7	1512	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S253L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	404					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.S404L(1)		ovary(3)	3						AAACTTTTCTGAAATTCTGAC	0.348000													25	78					0	0	0.006320	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098954	178098954	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:178098954C>T	ENST00000397062.3	-	2	645	c.91G>A	c.(91-93)Gga>Aga	p.G31R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CGACTTACTCCAAGATCTATA	0.358000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			11	35					0	0	0.010729	0	0
KIF26B	55083	broad.mit.edu	37	1	245809541	245809541	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245809541C>T	ENST00000366518.4	+	7	1178	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	KIF26B_ENST00000407071.2_Silent_p.V739V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	739					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V739V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGGCAATGTCATCCTGGCTC	0.502000													6	30					0	0	0.001168	0	0
ZZEF1	23140	broad.mit.edu	37	17	4017635	4017635	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:4017635G>C	ENST00000381638.2	-	4	948	c.824C>G	c.(823-825)tCc>tGc	p.S275C	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	275	DOC.						calcium ion binding|zinc ion binding	p.S275C(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCCAGTAGGATGAGGTTTC	0.388000													33	88					0	0	0.005524	0	0
COL24A1	255631	broad.mit.edu	37	1	86252137	86252137	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:86252137C>G	ENST00000370571.2	-	48	4325	c.3959G>C	c.(3958-3960)aGa>aCa	p.R1320T	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1320T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1320	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent	p.R1320T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCCGCCTCTGATGCCCTA	0.478000													11	34					0	0	0.008291	0	0
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42985496G>C	ENST00000253408.5	-	8	1258	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592000													31	75					0	0	0.012213	0	0
LIPE	3991	broad.mit.edu	37	19	42906947	42906947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:42906947C>G	ENST00000244289.4	-	9	3055	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	927					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.E927Q(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGCTCAGCTCATTTTTGGCC	0.612000													10	38					0	0	0.008291	0	0
FGD1	2245	broad.mit.edu	37	X	54497828	54497828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:54497828G>T	ENST00000375135.3	-	2	1133	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	134	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R134S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGTCTGAGCGAAGCCGCTGG	0.612000													17	39					1.99824e-07	2.24998e-07	0.004990	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418922	105418922	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:105418922C>T	ENST00000333244.5	-	7	2985	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	956						nucleus		p.D956N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCGCCATCGGGGGCTGTC	0.622000													5	437					0	0	0.001168	0	0
TMEM26	219623	broad.mit.edu	37	10	63170341	63170341	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:63170341G>A	ENST00000399298.3	-	6	1214	c.846C>T	c.(844-846)atC>atT	p.I282I	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	282						integral to membrane		p.I282I(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCATCTGATTGATCACTTTGA	0.507000													7	16					0	0	0.004482	0	0
ATP1A4	480	broad.mit.edu	37	1	160156121	160156121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:160156121G>A	ENST00000368081.4	+	21	3496	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K	ATP1A4_ENST00000470705.1_Missense_Mutation_p.E145K	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1009				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E1009K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCTATGATGAAATCAGAAA	0.557000													52	214					0	0	0.014410	0	0
CRNKL1	51340	broad.mit.edu	37	20	20024216	20024216	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:20024216C>G	ENST00000377340.2	-	8	1406	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E298Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E447Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	459					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.E459Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AACTTCTTCTCAAAGATGGTA	0.408000													5	103					0	0	0.000602	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				5	9	---	---	---	---					
TP63	8626	broad.mit.edu	37	3	189526295	189526303	+	In_Frame_Del	DEL	GCCAAGTCG	GCCAAGTCG	-			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:189526295_189526303delGCCAAGTCG	ENST00000264731.3	+	4	648_656	c.559_567delGCCAAGTCG	c.(559-567)gccaagtcgdel	p.AKS187del	TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_In_Frame_Del_p.AKS93del|TP63_ENST00000320472.5_In_Frame_Del_p.AKS187del|TP63_ENST00000440651.2_In_Frame_Del_p.AKS187del|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_In_Frame_Del_p.AKS187del|TP63_ENST00000392461.3_In_Frame_Del_p.AKS93del|TP63_ENST00000392463.2_In_Frame_Del_p.AKS93del|TP63_ENST00000354600.5_In_Frame_Del_p.AKS93del|TP63_ENST00000437221.1_In_Frame_Del_p.AKS93del|TP63_ENST00000392460.3_In_Frame_Del_p.AKS187del	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	187			A -> P (in lung carcinoma; somatic mutation).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTCGAGCACCGCCAAGTCGGCCACCTGGA	0.622										HNSCC(45;0.13)			9	45	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													3	4	---	---	---	---