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
ETNPPL	64850	broad.mit.edu	37	4	109670416	109670416	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:109670416G>A	ENST00000296486.3	-	8	1059	c.905C>T	c.(904-906)tCt>tTt	p.S302F	ETNPPL_ENST00000510706.1_Missense_Mutation_p.S262F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S296F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S244F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TTCCATCCCAGAGCTGCTGAA	0.408000													20	301					0	0	0.069288	0	0
ANK3	288	broad.mit.edu	37	10	61946485	61946485	+	Missense_Mutation	SNP	G	G	C	rs139111941		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61946485G>C	ENST00000280772.1	-	17	2264	c.2073C>G	c.(2071-2073)aaC>aaG	p.N691K	ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	691					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATTGCTCAGGTTCACATTCG	0.502000													9	181					0	0	0.058154	0	0
KANK2	25959	broad.mit.edu	37	19	11304177	11304177	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:11304177C>T	ENST00000432929.2	-	4	939	c.579G>A	c.(577-579)gcG>gcA	p.A193A	KANK2_ENST00000586659.1_Silent_p.A193A|KANK2_ENST00000355150.5_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000589359.1_Silent_p.A193A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	193										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGGGCACCCGCCATCTGCT	0.677000													11	233					0	0	0.069234	0	0
AC008103.5	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													6	361					0	0	0.021553	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229763	142229763	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:142229763T>C	ENST00000519067.1	-	3	746	c.443A>G	c.(442-444)cAc>cGc	p.H148R	SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000024061.3_Missense_Mutation_p.H148R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	199					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGAGAAGGCGTGGATGTTGAG	0.667000													28	94					0	0	0.134883	0	0
PCDH18	54510	broad.mit.edu	37	4	138442421	138442421	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:138442421G>T	ENST00000344876.4	-	4	3556	c.3170C>A	c.(3169-3171)gCa>gAa	p.A1057E	PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E|PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1057	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTACTGGCTGCCCATGCCGC	0.577000													6	299					0.0215528	0.0218156	0.021553	1	0
SARDH	1757	broad.mit.edu	37	9	136529088	136529088	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:136529088C>G	ENST00000371872.4	-	21	2937	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R	SARDH_ENST00000439388.1_Missense_Mutation_p.G894R|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R|SARDH_ENST00000371868.1_Missense_Mutation_p.G344R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	894					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGGTCACCCCCATTCTCTCC	0.577000													19	411					0	0	0.175082	0	0
ABCG5	64240	broad.mit.edu	37	2	44051560	44051560	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:44051560A>G	ENST00000405322.1	-	5	1299	c.403T>C	c.(403-405)Tca>Cca	p.S135P	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.S306P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	306	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTATCCACTGACGTCAGGTCC	0.393000													67	727					0	0	0.139131	0	0
POLG	5428	broad.mit.edu	37	15	89876526	89876526	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:89876526C>T	ENST00000268124.5	-	2	793	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	POLG_ENST00000442287.2_Missense_Mutation_p.A154T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	154					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGCAAGTTGGCCGCCTCCAGG	0.731000								DNA polymerases (catalytic subunits)					3	51					0	0	0.115264	0	0
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000261660.4_Silent_p.C88C|CPPED1_ENST00000433677.2_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532000													4	127					0	0	0.014758	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060245	35060245	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:35060245G>A	ENST00000373913.3	+	3	605	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R42H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCTTCGCCCGCGAGGCCCGC	0.697000													52	330					0	0	0.139131	0	0
AGBL5	60509	broad.mit.edu	37	2	27276415	27276415	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27276415C>T	ENST00000360131.4	+	3	520	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502000													39	374					0	0	0.086207	0	0
PCSK4	54760	broad.mit.edu	37	19	1487059	1487059	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:1487059G>A	ENST00000300954.5	-	8	922	c.861C>T	c.(859-861)cgC>cgT	p.R287R		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	287	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCAGCCCGCCGCGGCCCTGGG	0.697000													19	226					0	0	0.062417	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725318	31725318	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:31725318G>A	ENST00000396556.2	-	8	1656	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	512					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGGTGTTCGTGACAGCTGGCA	0.537000													45	539					0	0	0.139131	0	0
NOS1	4842	broad.mit.edu	37	12	117768312	117768312	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:117768312G>A	ENST00000317775.6	-	2	1248	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_ENST00000338101.4_Missense_Mutation_p.A188V|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTTTCTTCGCGGGGTCCTG	0.632000													31	775					0	0	0.134883	0	0
NUP54	53371	broad.mit.edu	37	4	77065403	77065403	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:77065403G>C	ENST00000264883.3	-	3	334	c.194C>G	c.(193-195)aCt>aGt	p.T65S	NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	65	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GCCAAAACCAGTACCAAATCC	0.393000													202	1444					0	0	0.139131	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													11	88					0	0	0.119110	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887547	12887547	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:12887547G>A	ENST00000535591.1	-	3	505	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	104								p.R104W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAGGGCTGCCGTTCTCTCATC	0.498000													170	1019					0	0	0.139131	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914427	147914427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:147914427C>T	ENST00000361727.3	+	19	3574	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATATAACTTTCAGGCACCAGC	0.493000										HNSCC(39;0.1)			15	606					0	0	0.119110	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337977	28337977	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:28337977G>A	ENST00000284987.5	-	1	855	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	245					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCAGCGGGCGAGAGAGCGGA	0.741000													7	43					0	0	0.038147	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213219	28213219	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:28213219C>T	ENST00000377294.2	-	5	1556	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	438					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAGGCTTTGCCACACATATT	0.483000													7	606					0	0	0.029380	0	0
EP400	57634	broad.mit.edu	37	12	132466743	132466743	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:132466743T>C	ENST00000333577.4	+	6	1866	c.1757T>C	c.(1756-1758)tTg>tCg	p.L586S	EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S			Q96L91	EP400_HUMAN	E1A binding protein p400	586					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGCCAGCTTGCACACCCCA	0.697000													48	632					0	0	0.139131	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	58					0.00116845	0.00121226	0.021553	1	0
LRCH3	84859	broad.mit.edu	37	3	197562601	197562601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:197562601G>T	ENST00000438796.2	+	9	1203	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	387	Poly-Glu.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGAGGAAGAGGAGGCCGAGGT	0.507000													37	296					9.80977e-26	1.07842e-25	0.069456	1	0
XXYLT1	152002	broad.mit.edu	37	3	194790812	194790812	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:194790812T>C	ENST00000310380.6	-	4	922	c.814A>G	c.(814-816)Aac>Gac	p.N272D	XXYLT1_ENST00000356740.5_Missense_Mutation_p.N66D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.N126D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.N69D|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.N69D	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	272						integral to membrane	transferase activity, transferring glycosyl groups										GTCTGGGGGTTCTCATGGCGG	0.672000													18	302					0	0	0.043863	0	0
MMRN2	79812	broad.mit.edu	37	10	88702296	88702296	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:88702296G>A	ENST00000372027.4	-	6	2318	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	749						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGAAGAGCCGCTGGTGCTGC	0.652000													13	414					0	0	0.119110	0	0
SDPR	8436	broad.mit.edu	37	2	192701269	192701269	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:192701269C>T	ENST00000304141.4	-	2	987	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	220						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ACCTTTTCCTCGGCACTGTCT	0.493000													60	741					0	0	0.139131	0	0
ZNF799	90576	broad.mit.edu	37	19	12502559	12502559	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:12502559G>A	ENST00000419318.1	-	4	1306	c.557C>T	c.(556-558)aCg>aTg	p.T186M	ZNF799_ENST00000430385.3_Missense_Mutation_p.T218M|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCCAGTGTGCGTTCTCTCATG	0.403000													94	682					0	0	0.139131	0	0
ASB16	92591	broad.mit.edu	37	17	42255678	42255678	+	Missense_Mutation	SNP	C	C	T	rs75035743	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:42255678C>T	ENST00000293414.1	+	5	1366	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	428	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGCCGCTGCCGGCAGGGTGC	0.677000													7	131					0	0	0.038147	0	0
TUBB8P7	0	broad.mit.edu	37	16	90160812	90160812	+	RNA	SNP	C	C	T	rs8050190	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:90160812C>T	ENST00000567960.1	+	0	120				TUBB8P7_ENST00000564451.1_RNA																							ACGGGGACAGCCACCTGCCGC	0.706000													3	37					0	0	0.029380	0	0
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:31890287G>A	ENST00000396184.3	-	9	1023	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396182.2_Silent_p.T273T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T273T(2)|p.T333T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGTTCCGGTATGCTCGT	0.448000													58	519					0	0	0.139131	0	0
PRDM15	63977	broad.mit.edu	37	21	43256271	43256271	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:43256271C>T	ENST00000422911.1	-	10	1441	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000269844.3_Missense_Mutation_p.R776H			P57071	PRD15_HUMAN	PR domain containing 15	776	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTCTCTTTGCGGCTGAACAA	0.493000													5	222					0	0	0.014758	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													3	51					0	0	0.014758	0	0
AMPD1	270	broad.mit.edu	37	1	115222920	115222920	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:115222920C>T	ENST00000369538.3	-	5	861	c.814G>A	c.(814-816)Gat>Aat	p.D272N	AMPD1_ENST00000520113.2_Missense_Mutation_p.D276N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	243					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAATTCATATCGTCTAAGAAG	0.393000													14	535					0	0	0.175082	0	0
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:228467882C>T	ENST00000570156.2	+	34	9027	c.8953C>T	c.(8953-8955)Cgg>Tgg	p.R2985W	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2556W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1986	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642000													26	331					0	0	0.144211	0	0
DOLPP1	57171	broad.mit.edu	37	9	131849065	131849065	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:131849065G>A	ENST00000372546.4	+	7	700	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	223					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGGTAACCCGGGCAGAAGCC	0.597000													11	414					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179569435	179569435	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179569435C>T	ENST00000589042.1	-	105	29988	c.29764G>A	c.(29764-29766)Gac>Aac	p.D9922N	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN_ENST00000591111.1_Missense_Mutation_p.D9605N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9605	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTAATGTCAATTTCAAAG	0.333000													13	133					0	0	0.093190	0	0
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:51183206G>T	ENST00000216139.5	+	5	877	c.837G>T	c.(835-837)tgG>tgT	p.W279C	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	279	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597000													7	107					2.0095e-06	2.12469e-06	0.029380	1	0
TMEM214	54867	broad.mit.edu	37	2	27259447	27259447	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27259447C>T	ENST00000238788.9	+	6	875	c.813C>T	c.(811-813)acC>acT	p.T271T	TMEM214_ENST00000404032.3_Silent_p.T226T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	271						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAACCTCACCGAGGGACTGA	0.567000													63	672					0	0	0.139131	0	0
SDK2	54549	broad.mit.edu	37	17	71354323	71354323	+	Missense_Mutation	SNP	C	C	T	rs146597384		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:71354323C>T	ENST00000392650.3	-	40	5488	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1830	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGATGGGCACGCCAGGCGGT	0.652000													82	780					0	0	0.139131	0	0
NEFL	4747	broad.mit.edu	37	8	24813396	24813396	+	RNA	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:24813396G>A	ENST00000221169.5	-	0	1228							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGTCGATGCGCTTCTCGAGC	0.627000													13	195					0	0	0.146539	0	0
PCDHB8	0	broad.mit.edu	37	5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A	rs149925643		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V474I(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662000													30	2000					0	0	0.058154	0	0
ATG16L1	55054	broad.mit.edu	37	2	234182379	234182379	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:234182379G>A	ENST00000392017.4	+	8	1064	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000373525.5_Silent_p.S125S|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000347464.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	269					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCGACTCTCGCAGCCTGCTG	0.383000													10	415					0	0	0.080935	0	0
SPTB	6710	broad.mit.edu	37	14	65271700	65271700	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:65271700C>T	ENST00000389722.3	-	2	310	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPTB_ENST00000389720.3_Missense_Mutation_p.R86H|SPTB_ENST00000389721.5_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000556626.1_Missense_Mutation_p.R86H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	86	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGAGCATGCGCCCATCCCG	0.582000													7	474					0	0	0.038147	0	0
HECTD4	283450	broad.mit.edu	37	12	112622141	112622141	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:112622141G>A	ENST00000550722.1	-	61	10586	c.10191C>T	c.(10189-10191)acC>acT	p.T3397T	HECTD4_ENST00000377560.5_Silent_p.T3371T|HECTD4_ENST00000430131.2_Silent_p.T3121T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ccaggctgccGGTGCTGCACA	0.677000													16	249					0	0	0.132662	0	0
ZFHX3	463	broad.mit.edu	37	16	72830460	72830460	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:72830460G>T	ENST00000268489.5	-	9	6793	c.6121C>A	c.(6121-6123)Cca>Aca	p.P2041T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2041	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGAGGTGGTGGTGGCTCT	0.617000													21	277					2.89027e-11	3.09538e-11	0.069288	1	0
NPTX2	4885	broad.mit.edu	37	7	98254349	98254349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:98254349C>A	ENST00000265634.3	+	3	924	c.759C>A	c.(757-759)tgC>tgA	p.C253*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	253	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGCCTGTGGCTGC	0.597000													32	955					1.99505e-19	2.17881e-19	0.163468	1	0
CHST6	4166	broad.mit.edu	37	16	75512997	75512997	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:75512997C>T	ENST00000332272.4	-	3	909	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	244					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGCACACCTCGCGCACCACG	0.716000													28	198					0	0	0.125774	0	0
PEX5L	51555	broad.mit.edu	37	3	179519804	179519804	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:179519804A>C	ENST00000467460.1	-	15	2023	c.1693T>G	c.(1693-1695)Ttt>Gtt	p.F565V	PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	565					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCAGTGAGAAAATTGCTGACC	0.393000													92	542					0	0	0.139131	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143814	46143814	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:46143814G>A	ENST00000374366.3	-	6	740	c.275C>T	c.(274-276)cCg>cTg	p.P92L	ZFAND4_ENST00000374371.2_Missense_Mutation_p.P166L|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.P166L			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	166	Ubiquitin-like.						zinc ion binding										GTCAGATAACGGTGTTAAAGT	0.378000													17	577					0	0	0.175082	0	0
LILRB1	0	broad.mit.edu	37	19	55147979	55147979	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:55147979C>T	ENST00000396331.1	+	15	2039	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	561					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCAGTGACGTATGCCGAG	0.567000										HNSCC(37;0.09)			7	319					0	0	0.029380	0	0
NRBP1	29959	broad.mit.edu	37	2	27656328	27656328	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27656328G>A	ENST00000233557.3	+	3	1020	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	63				R -> G (in Ref. 4; BAD96856).	ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGGGCGCTGGCAGAAG	0.493000													28	163					0	0	0.099896	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133958614	133958614	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:133958614C>T	ENST00000298622.4	+	11	1744	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTACAGACCCGTGAGCAGCT	0.572000													8	86					0	0	0.047766	0	0
MYH4	4622	broad.mit.edu	37	17	10360755	10360755	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:10360755C>T	ENST00000255381.2	-	16	1989	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	627	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCAGTTTGTGCCCCAGAGAAG	0.458000													5	304					0	0	0.014758	0	0
SPZ1	84654	broad.mit.edu	37	5	79617205	79617205	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:79617205G>T	ENST00000296739.4	+	1	1416	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTGGAAAAAAGACAGATCCTG	0.363000													30	333					4.74835e-14	5.15181e-14	0.153744	1	0
CAPN12	147968	broad.mit.edu	37	19	39227921	39227921	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:39227921G>C	ENST00000328867.4	-	10	1545	c.1237C>G	c.(1237-1239)Cgg>Ggg	p.R413G	CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	413	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGGCCCCGTGCCCCTGCA	0.682000													4	12					0	0	0.029380	0	0
FOXI2	399823	broad.mit.edu	37	10	129536923	129536923	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:129536923G>A	ENST00000388920.4	+	2	690	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	217					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGCCGAGGCGCCAGCGCTGG	0.687000													12	44					0	0	0.080935	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841411	8841411	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:8841411G>A	ENST00000324060.2	+	1	96	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATCAGTCGGTGGCCTCAG	0.507000													10	255					0	0	0.069234	0	0
LINGO2	158038	broad.mit.edu	37	9	27950456	27950456	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:27950456C>T	ENST00000379992.2	-	6	663	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	72						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAGGGTTGACGCTTTTTAGC	0.438000													138	782					0	0	0.139131	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692000													6	490					0	0	0.029380	0	0
OR8B12	219858	broad.mit.edu	37	11	124413511	124413511	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:124413511C>T	ENST00000306842.2	-	1	64	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTTAAGCCTTCGAGGATAAAC	0.527000													46	341					0	0	0.139131	0	0
CNPY2	10330	broad.mit.edu	37	12	56705188	56705188	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:56705188G>A	ENST00000273308.4	-	4	755	c.215C>T	c.(214-216)gCc>gTc	p.A72V	CNPY2_ENST00000551720.1_Intron|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A72V|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	72	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CTCTGAGCGGGCATAAGGCAC	0.473000													6	551					0	0	0.021553	0	0
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:45267329G>A	ENST00000303230.4	-	7	1702	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCAGTACGACGTCCTTTG	0.408000													10	376					0	0	0.069234	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373804	373804	+	Silent	SNP	C	C	T	rs149327151	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:373804C>T	ENST00000329962.6	+	8	759	c.759C>T	c.(757-759)cgC>cgT	p.R253R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	253						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACGACCGCGGCTCGGACC	0.642000													10	329					0	0	0.069234	0	0
SEPT6	23157	broad.mit.edu	37	X	118763358	118763358	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:118763358C>T	ENST00000394610.1	-	9	1467	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SEPT6_ENST00000343984.5_Silent_p.T401T|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000489216.1_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	401					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCAGCCGCCGTCTTTCTTT	0.507000			T	MLL	AML								8	551					0	0	0.038147	0	0
ABCC5	10057	broad.mit.edu	37	3	183655752	183655752	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:183655752G>A	ENST00000334444.6	-	26	4031	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	ABCC5_ENST00000265586.6_Missense_Mutation_p.A1221V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1264	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCGGAGGTCGGCAAGGCCAAT	0.547000													5	348					0	0	0.014758	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111150	7111150	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7111150G>A	ENST00000306904.5	+	1	986	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	267	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGAGGTCGCGACCGTGACTA	0.672000													32	189					0	0	0.163468	0	0
ADCYAP1	116	broad.mit.edu	37	18	909573	909573	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:909573C>T	ENST00000579794.1	+	4	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A	ADCYAP1_ENST00000450565.3_Silent_p.A156A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	156	Important for receptor binding.				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTTGGCGGCCGTCCTAGGGA	0.527000													48	781					0	0	0.139131	0	0
VSTM1	284415	broad.mit.edu	37	19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517000													6	190					0	0	0.021553	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325653	99325653	+	Silent	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:99325653T>C	ENST00000408927.3	+	7	776	c.663T>C	c.(661-663)agT>agC	p.S221S	RAP1GDS1_ENST00000264572.7_Silent_p.S130S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S|RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000408900.3_Silent_p.S172S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	221							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGTTTGCCAGTACAAACATTG	0.299000			T	NUP98	T-ALL								30	263					0	0	0.134883	0	0
PYGB	5834	broad.mit.edu	37	20	25259058	25259058	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:25259058G>A	ENST00000216962.4	+	8	1069	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	320					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TTCGGCTGCCGGGACCCTGTG	0.622000													9	359					0	0	0.047766	0	0
EMR2	30817	broad.mit.edu	37	19	14862377	14862377	+	Missense_Mutation	SNP	G	G	A	rs45563436		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:14862377G>A	ENST00000315576.3	-	16	2346	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	EMR2_ENST00000353005.1_Missense_Mutation_p.T490M|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	632					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTGACCACCGTCAGGTTCCG	0.557000													46	344					0	0	0.124865	0	0
RNF220	55182	broad.mit.edu	37	1	45111155	45111155	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:45111155C>T	ENST00000355387.2	+	12	1890	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.I480I			Q5VTB9	RN220_HUMAN	ring finger protein 220	480					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ACAGCGACATCGAGAAGTAAG	0.592000													6	225					0	0	0.029380	0	0
COL6A2	0	broad.mit.edu	37	21	47532319	47532319	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:47532319G>A	ENST00000300527.4	+	3	646	c.542G>A	c.(541-543)cGc>cAc	p.R181H	COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	181	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGCGGGCCCGCGAGGAGGGC	0.711000													7	142					0	0	0.029380	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								6	209					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179604915	179604915	+	Missense_Mutation	SNP	C	C	T	rs140847585	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179604915C>T	ENST00000589042.1	-	48	13269	c.13045G>A	c.(13045-13047)Gtg>Atg	p.V4349M	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4032M|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M|TTN_ENST00000359218.5_Missense_Mutation_p.V4111M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4032	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATCACCACGTTGTCAGAA	0.463000													74	440					0	0	0.139131	0	0
SHKBP1	92799	broad.mit.edu	37	19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:41089528G>A	ENST00000291842.5	+	12	1119	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622000													54	615					0	0	0.139131	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502000													14	310					0	0	0.105934	0	0
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:18189251G>A	ENST00000380033.4	-	13	2187	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_ENST00000380030.3_Silent_p.C594C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.							p.C685C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAGGCTTGCGCAAGACTTAG	0.428000													33	304					0	0	0.144211	0	0
LRP3	4037	broad.mit.edu	37	19	33696374	33696374	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:33696374G>A	ENST00000253193.7	+	5	900	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	233	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GTGGAGCGGCGCTGTGACGGC	0.756000													3	46					0	0	0.115264	0	0
ACSS1	84532	broad.mit.edu	37	20	24993297	24993297	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:24993297C>T	ENST00000537502.1	-	10	2993	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	ACSS1_ENST00000323482.4_Missense_Mutation_p.D571N|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000432802.2_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	571			V -> M (in dbSNP:rs6050249).		acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGGGTGGTCGGCCTGTGTA	0.577000													22	664					0	0	0.076483	0	0
FGF17	8822	broad.mit.edu	37	8	21900685	21900685	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:21900685A>G	ENST00000359441.3	+	2	568	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	22					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTCTGCTGTCAAACTCAGGTA	0.622000													6	145					0	0	0.021553	0	0
THAP2	83591	broad.mit.edu	37	12	72070632	72070632	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:72070632A>T	ENST00000308086.2	+	3	1932	c.431A>T	c.(430-432)gAa>gTa	p.E144V	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	144						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGAAAAAGAAATAGCAAGC	0.358000													33	248					0	0	0.163468	0	0
FMN2	56776	broad.mit.edu	37	1	240374520	240374520	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:240374520G>A	ENST00000319653.9	+	6	4280	c.4050G>A	c.(4048-4050)aaG>aaA	p.K1350K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1350	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATCTCAAAGACGAAGGCTA	0.328000													18	545					0	0	0.175082	0	0
DNM1P47	0	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													12	85					0	0	0.132662	0	0
RBBP8	5932	broad.mit.edu	37	18	20572961	20572961	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:20572961G>A	ENST00000399722.2	+	11	1522	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	391					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCACAGTCTTGGGTCTGAAGT	0.333000								Homologous recombination					107	725					0	0	0.139131	0	0
MTHFD2P1	0	broad.mit.edu	37	3	95374591	95374591	+	RNA	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:95374591G>T	ENST00000494840.1	-	0	1270					NR_077228.1																						CCAAAATGCCGTGCTGTGGAA	0.488000													4	40					0.00909568	0.00932026	0.150653	1	0
LAS1L	81887	broad.mit.edu	37	X	64738237	64738237	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:64738237G>A	ENST00000374811.3	-	12	1597	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000374807.5_Silent_p.G502G|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	519						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGCCTCAGAGCCCTCCTGCA	0.582000													20	278					0	0	0.055883	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133932	38133932	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:38133932C>T	ENST00000317025.8	-	23	4471	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1318					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTCATGCATCTGCTTTGGTT	0.423000			T	NUP98	AML								22	226					0	0	0.055883	0	0
FSTL4	23105	broad.mit.edu	37	5	132534846	132534846	+	Missense_Mutation	SNP	G	G	A	rs150466282	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:132534846G>A	ENST00000265342.7	-	16	2719	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	824						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTCACACCGCAGCGTGTTT	0.577000													10	256					0	0	0.069234	0	0
MTUS2	23281	broad.mit.edu	37	13	29598940	29598940	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:29598940G>A	ENST00000431530.3	+	1	193	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	35						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGAGATACGAATGCCAATC	0.438000													10	214					0	0	0.058154	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	108					0	0	0.080935	0	0
FLT1	2321	broad.mit.edu	37	13	28908198	28908198	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:28908198G>T	ENST00000282397.4	-	18	2808	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	853	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGCACGTAGGTGATTTCTTA	0.428000													96	700					1.90545e-35	2.1087e-35	0.139131	1	0
ADAM23	8745	broad.mit.edu	37	2	207452819	207452819	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:207452819G>A	ENST00000264377.3	+	20	2121	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H|ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	598	Cys-rich.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCAGGGCCGCTGCTACAAT	0.498000													40	321					0	0	0.139131	0	0
PCDHB7	0	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512000													5	372					0	0	0.021553	0	0
ADRA1A	148	broad.mit.edu	37	8	26627800	26627800	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:26627800G>A	ENST00000380573.3	-	3	2290	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	423					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTCTCACCCGGGCTGTGGTA	0.507000													42	626					0	0	0.098360	0	0
WDR17	116966	broad.mit.edu	37	4	177100634	177100634	+	Silent	SNP	C	C	T	rs142280699	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:177100634C>T	ENST00000393643.2	+	30	4053	c.3801C>T	c.(3799-3801)gaC>gaT	p.D1267D	WDR17_ENST00000507824.2_Silent_p.D1266D|WDR17_ENST00000280190.4_Silent_p.D1291D|WDR17_ENST00000508596.1_Silent_p.D1252D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1291										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCTTGAAGACGGGAAATCTG	0.393000													16	506					0	0	0.132662	0	0
CCT8	10694	broad.mit.edu	37	21	30435800	30435800	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:30435800C>T	ENST00000286788.4	-	8	1020	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CCT8_ENST00000542732.1_Missense_Mutation_p.E253K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.E199K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	272					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTTTTCTTCTCCCTTACTA	0.398000													6	428					0	0	0.021553	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047044	76047044	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:76047044C>T	ENST00000335749.4	+	3	2470	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	634	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGACACCACGAGATCTGGG	0.507000													9	270					0	0	0.047766	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	259					0	0	0.038147	0	0
KCNT1	57582	broad.mit.edu	37	9	138683989	138683989	+	Silent	SNP	C	C	T	rs141521745	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138683989C>T	ENST00000298480.5	+	32	3827	c.3753C>T	c.(3751-3753)cgC>cgT	p.R1251R	KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000487664.1_Silent_p.R1206R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000263604.3_Silent_p.R1225R			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1230						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGAGACTCGCGACGAGACAC	0.667000													12	112					0	0	0.093190	0	0
FBN1	2200	broad.mit.edu	37	15	48780430	48780430	+	Missense_Mutation	SNP	C	C	T	rs137854478		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:48780430C>T	ENST00000316623.5	-	27	3672	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1073	EGF-like 16; calcium-binding.		E -> K (in MFS; severe neonatal).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGCGGCATTCGTCAATGTCT	0.453000													31	296					0	0	0.134883	0	0
IGFBP4	3487	broad.mit.edu	37	17	38612726	38612726	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:38612726G>A	ENST00000269593.4	+	4	943	c.668G>A	c.(667-669)cGt>cAt	p.R223H	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	223	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGGGCAGCGTGGCAAGTGC	0.627000													9	443					0	0	0.069234	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021973	8021973	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:8021973G>A	ENST00000296372.8	-	12	1368	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	409					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGTGGAGGGGGGCGGCTTGCT	0.632000													6	207					0	0	0.038147	0	0
FMO2	2327	broad.mit.edu	37	1	171174741	171174741	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:171174741T>A	ENST00000441535.1	+	7	1268	c.1151T>A	c.(1150-1152)cTt>cAt	p.L384H	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.L384H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	384					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGCTGAACTTCAAGCTCGT	0.453000													12	218					0	0	0.080935	0	0
SETD2	29072	broad.mit.edu	37	3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCAGTCTGCGAAACATTAG	0.443000			"""N, F, S, Mis"""		clear cell renal carcinoma								35	895					0	0	0.173368	0	0
LRTM2	0	broad.mit.edu	37	12	1943539	1943539	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:1943539C>T	ENST00000543818.1	+	5	1607	c.765C>T	c.(763-765)gaC>gaT	p.D255D	LRTM2_ENST00000299194.1_Silent_p.D255D|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.D255D	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	255						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCTGGAGGACGAGAATAGCT	0.637000													23	237					0	0	0.069288	0	0
ARID4B	51742	broad.mit.edu	37	1	235377172	235377172	+	Missense_Mutation	SNP	G	G	T	rs141973838		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:235377172G>T	ENST00000264183.3	-	17	2250	c.1753C>A	c.(1753-1755)Caa>Aaa	p.Q585K	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.Q585K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.Q585K(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACATTTTTTGATTTTTCCCT	0.423000													8	891					0.0135373	0.0137864	0.093190	1	0
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458000													52	397					0	0	0.139131	0	0
USH1C	10083	broad.mit.edu	37	11	17531093	17531093	+	Missense_Mutation	SNP	G	G	A	rs41282932	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:17531093G>A	ENST00000005226.7	-	18	1822	c.1823C>T	c.(1822-1824)cCg>cTg	p.P608L	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AACGGATGGCGGGGGAGGGAT	0.662000													3	99					0	0	0.115264	0	0
DHX30	22907	broad.mit.edu	37	3	47888007	47888007	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47888007C>T	ENST00000446256.2	+	12	1900	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	DHX30_ENST00000457607.1_Missense_Mutation_p.A510V|DHX30_ENST00000445061.1_Missense_Mutation_p.A482V|DHX30_ENST00000348968.4_Missense_Mutation_p.A454V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	482						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCGAGGTGCCCGCTGCAAT	0.652000													8	755					0	0	0.047766	0	0
SOX8	30812	broad.mit.edu	37	16	1035280	1035280	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:1035280G>A	ENST00000293894.3	+	3	1350	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	412					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CACTCGCCGCGCCGGCCCTAC	0.692000													23	137					0	0	0.069288	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112146	151112146	+	Missense_Mutation	SNP	C	C	T	rs143410634		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:151112146C>T	ENST00000341697.3	-	5	1956	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	89	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTCTTCTTCGGCTTGAAGA	0.572000													9	231					0	0	0.058154	0	0
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413000													35	333					0	0	0.173368	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379157	77379157	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:77379157C>T	ENST00000334955.7	+	3	1147	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	374						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTGTCTCCTATGGAGAT	0.453000													74	623					0	0	0.139131	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085557	64085557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:64085557G>A	ENST00000295902.6	-	8	2290	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	569						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATGGAAAATCGGGATAGGTGC	0.537000													68	718					0	0	0.139131	0	0
C21orf2	755	broad.mit.edu	37	21	45753013	45753013	+	Silent	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:45753013C>T	ENST00000339818.4	-	4	483	c.276G>A	c.(274-276)ctG>ctA	p.L92L	C21orf2_ENST00000325223.7_Silent_p.L92L|C21orf2_ENST00000397956.3_Silent_p.L92L|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92										endometrium(2)	2				Colorectal(79;0.0806)		CGGCCAGCCACAGCACCCGCA	0.687000													12	107					0	0	0.105934	0	0
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667000													4	219					0	0	0.058154	0	0
C12orf39	80763	broad.mit.edu	37	12	21680123	21680123	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:21680123G>A	ENST00000256969.2	+	3	308	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	48						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTGAAAGGGGCACGTAAGTT	0.458000													18	443					0	0	0.175082	0	0
CHRNA1	1134	broad.mit.edu	37	2	175619033	175619033	+	Missense_Mutation	SNP	C	C	T	rs137852807		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:175619033C>T	ENST00000348749.5	-	5	531	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V177I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	177					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						AAGTGGGTGACGATGATCTCA	0.527000													22	386					0	0	0.076483	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516228	138516228	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138516228G>A	ENST00000371763.1	-	5	799	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	182					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TCTCCACCCCGAACTCATTCT	0.577000													31	366					0	0	0.153744	0	0
SLIT3	6586	broad.mit.edu	37	5	168244314	168244314	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:168244314C>T	ENST00000519560.1	-	8	1203	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	262	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGGGCACACGTACTCCTTC	0.572000													18	235					0	0	0.160694	0	0
C5orf49	134121	broad.mit.edu	37	5	7835544	7835544	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:7835544C>T	ENST00000399810.2	-	2	683	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	72										large_intestine(3)|lung(5)|skin(1)	9						TCTGTCATCTCGGTGCAACTT	0.353000													89	604					0	0	0.139131	0	0
SRP72	6731	broad.mit.edu	37	4	57333839	57333839	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:57333839C>G	ENST00000342756.5	+	1	759	c.38C>G	c.(37-39)gCg>gGg	p.A13G	SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	13					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCAGTACCTGCGCTGTGGAGT	0.667000													16	122					0	0	0.146539	0	0
SENP7	57337	broad.mit.edu	37	3	101177867	101177867	+	Silent	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:101177867G>A	ENST00000394095.2	-	4	269	c.216C>T	c.(214-216)atC>atT	p.I72I	SENP7_ENST00000394091.1_Silent_p.I39I|SENP7_ENST00000394094.2_Silent_p.I72I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000314261.7_Silent_p.I72I	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	72					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTAGAGAGATGACTTTAT	0.333000													26	791					0	0	0.099896	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	121					0	0	0.014758	0	0
CCDC170	80129	broad.mit.edu	37	6	151936716	151936716	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:151936716G>A	ENST00000367290.5	+	10	1959	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CCDC170_ENST00000239374.7_Missense_Mutation_p.E617K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	617																	TGAGGCTAAGGAGAATAAAGA	0.403000													34	473					0	0	0.173368	0	0
SEC14L1	6397	broad.mit.edu	37	17	75205427	75205427	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:75205427G>A	ENST00000413679.2	+	14	1783	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	494	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCCAGTGCGAAGTGCCAGA	0.547000													6	171					0	0	0.029380	0	0
SPATA1	100505741	broad.mit.edu	37	1	84988201	84988201	+	RNA	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:84988201delT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GTAAGTTTTCTTTTTTTTTCT	0.323													7	303	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													8	196	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152085461	152085462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:152085461_152085462insA	ENST00000368804.1	-	2	230_231	c.231_232insT	c.(229-234)ttttttfs	p.FF77fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	77	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTTGAAAATAAATAGGAGGA	0.485													11	400	---	---	---	---					
NR1I3	0	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:161202999_161203000insG	ENST00000367983.4	-	4	661_662	c.367_368insC	c.(367-369)ccafs	p.P123fs	NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													8	1430	---	---	---	---					
AC062028.1	0	broad.mit.edu	37	2	11253059	11253066	+	RNA	DEL	GAAGGAAA	GAAGGAAA	-	rs10174394	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:11253059_11253066delGAAGGAAA	ENST00000396164.1	-	0	984					NR_040080.1																						ggaaggtgaggaaggaaagaaggaagta	0.505													6	8	---	---	---	---					
BIN1	274	broad.mit.edu	37	2	127808793	127808794	+	Frame_Shift_Ins	INS	-	-	CCCG			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:127808793_127808794insCCCG	ENST00000316724.5	-	16	1808_1809	c.1397_1398insCGGG	c.(1396-1398)gggfs	p.-465fs	BIN1_ENST00000259238.4_Frame_Shift_Ins_p.-369fs|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.-311fs|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.-422fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.-378fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.-326fs|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.-354fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393041.3_Frame_Shift_Ins_p.-347fs|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.-390fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTTGGGTCCCACCCGCCACCTC	0.639													17	308	---	---	---	---					
AC012668.2	0	broad.mit.edu	37	2	216429207	216429208	+	RNA	INS	-	-	TGTGTGTG	rs71047909	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:216429207_216429208insTGTGTGTG	ENST00000417485.2	+	0	216																											gaaatcatatttgtgtgtgtgt	0.396													2	4	---	---	---	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.103_splice	c.e1+1	p.ED34_splice	XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	222	---	---	---	---					
RP11-454C18.1	0	broad.mit.edu	37	3	151368109	151368110	+	RNA	DEL	AC	AC	-	rs71621441		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:151368109_151368110delAC	ENST00000492731.1	+	0	268																											tactctgcagacacacacacac	0.431													3	4	---	---	---	---					
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agg>ag	p.SR291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606													9	737	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggafs	p.RR421fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													7	627	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190881950	190881952	+	In_Frame_Del	DEL	AGA	AGA	-	rs56257823		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:190881950_190881952delAGA	ENST00000226798.4	+	7	807_809	c.585_587delAGA	c.(583-588)cca>cc	p.PE195del	FRG1_ENST00000514482.1_Intron	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	195					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGACATTCCAGAAGAAGACAAA	0.340													8	227	---	---	---	---					
CD14	929	broad.mit.edu	37	5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ccg>c	p.LP12del	CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635													7	222	---	---	---	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:33287898_33287900delTCC	ENST00000374542.5	-	5	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaa>ga	p.EE455del	DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del|DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	455	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								7	284	---	---	---	---					
KLHL7-AS1	0	broad.mit.edu	37	7	23144372	23144373	+	RNA	INS	-	-	CAC	rs72009010	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:23144372_23144373insCAC	ENST00000419813.1	-	0	145					NR_046220.1																						tgtgacctcttcaccaccacca	0.510													6	5	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													5	6	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													7	463	---	---	---	---					
ZFP37	7539	broad.mit.edu	37	9	115818910	115818912	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:115818910_115818912delCTC	ENST00000374227.3	-	1	84_86	c.57_59delGAG	c.(55-60)aga>ag	p.RR19del	ZFP37_ENST00000555206.1_In_Frame_Del_p.RR19del|ZFP37_ENST00000553380.1_In_Frame_Del_p.RR19del			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R20K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTCCA	0.665													82	831	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108141784	108141791	+	Splice_Site	DEL	ATCTTAGT	ATCTTAGT	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:108141784_108141791delATCTTAGT	ENST00000278616.4	+	19	3223_3224	c.2838_splice	c.e19-1	p.I946_splice	ATM_ENST00000452508.2_Splice_Site_p.I946_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	946					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			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)		CCCTCCTACCATCTTAGTATCTAATGCT	0.389			"""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)			23	203	---	---	---	---					
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:118427683_118427685delATC	ENST00000264020.2	-	5	651_653	c.274_276delGAT	c.(274-276)del	p.D92del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	41					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478													7	583	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:50452565_50452567delGAG	ENST00000228468.4	+	2	401_403	c.16_18delGAG	c.(16-18)del	p.E9del	ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													7	610	---	---	---	---					
CTD-2277K2.1	0	broad.mit.edu	37	14	62380422	62380423	+	RNA	INS	-	-	TGTGTG	rs67504423	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:62380422_62380423insTGTGTG	ENST00000554436.1	+	0	482																											ctttgggtctttgtgtgtgtgt	0.366													4	3	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174626	63174626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:63174626delT	ENST00000322893.7	-	11	2835	c.2567delA	c.(2566-2568)acfs	p.N856fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	856					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTTAGTGGGTTTTTGGTCAC	0.463													8	744	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:94517596_94517598delTCT	ENST00000330836.5	-	9	2650_2652	c.2519_2521delAGA	c.(2518-2523)aca>a	p.KT840del	DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	468	---	---	---	---					
COX10-AS1	0	broad.mit.edu	37	17	13679924	13679925	+	RNA	DEL	AC	AC	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:13679924_13679925delAC	ENST00000582752.2	-	0	185																											acacacacagacacacacacac	0.441													2	4	---	---	---	---					
C3P1	0	broad.mit.edu	37	19	10160303	10160304	+	RNA	INS	-	-	AGAAAAAG	rs11085553		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:10160303_10160304insAGAAAAAG	ENST00000495140.1	+	0	1342																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						aaaagaaagaaagaaagaaaga	0.406													2	4	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378													3	5	---	---	---	---					
AP001597.1	0	broad.mit.edu	37	21	27809449	27809450	+	RNA	INS	-	-	GTGTGTGTGTGTGTGTGT	rs71183557	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:27809449_27809450insGTGTGTGTGTGTGTGTGT	ENST00000357401.3	+	0	186				AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000444306.1_RNA																							ATCTTATTCCAgtgtgtgtgtg	0.376													5	5	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35147045	35147046	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:35147045_35147046insA	ENST00000381318.3	+	13	1606_1607	c.1318_1319insA	c.(1318-1320)actfs	p.T440fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.T403fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.T440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	440	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAAAACGGGAACTTGAAAGG	0.376													12	216	---	---	---	---					
CTA-714B7.5	0	broad.mit.edu	37	22	35552285	35552288	+	RNA	DEL	ACAC	ACAC	-	rs71982519		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:35552285_35552288delACAC	ENST00000423311.1	-	0	512																											ACAATACCCTacacacacacacac	0.495													4	3	---	---	---	---