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
GFOD2	81577	broad.mit.edu	37	16	67709084	67709084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67709084C>G	ENST00000268797.7	-	3	1477	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	378						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAAGTGCCTCACACAGGTTC	0.627000													35	182					0	0	0.779181	0	0
SPEN	23013	broad.mit.edu	37	1	16203019	16203019	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:16203019C>A	ENST00000375759.3	+	3	931	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	243	Arg-rich.|Ser-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R243R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCAGGAGTCGGTCACCACA	0.547000													27	55					8.24728e-16	9.62183e-16	0.681144	1	0
PKN1	5585	broad.mit.edu	37	19	14569141	14569141	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:14569141A>T	ENST00000242783.6	+	9	1538	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	PKN1_ENST00000342216.4_Missense_Mutation_p.H464L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	458	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.H458L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AATGAGAGGCATGAGGTGCAG	0.577000													10	77					0	0	0.361761	0	0
OR1L4	254973	broad.mit.edu	37	9	125486771	125486771	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:125486771C>G	ENST00000259466.1	+	1	503	c.503C>G	c.(502-504)tCt>tGt	p.S168C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCTCGCTTGTCTTTCTGTGCC	0.498000													20	305					0	0	0.769981	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881860	228881860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:228881860G>A	ENST00000392056.3	-	7	3756	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1237L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1237						cytoplasm	protein binding	p.S1237L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCATGGACGACTGTCTGTG	0.562000													29	133					0	0	0.740014	0	0
ARSG	22901	broad.mit.edu	37	17	66391318	66391318	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:66391318C>T	ENST00000448504.2	+	10	1992	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	ARSG_ENST00000452479.2_Missense_Mutation_p.S235L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	399					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTGGCCGGTCACAGCCTGGG	0.582000													5	89					0	0	0.248553	0	0
DNAH7	56171	broad.mit.edu	37	2	196822095	196822095	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:196822095G>C	ENST00000312428.6	-	19	3068	c.2968C>G	c.(2968-2970)Ctg>Gtg	p.L990V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	990	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGGCTCCAGATACAGCCAC	0.483000													4	105					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	66					4.16121e-05	4.42889e-05	0.639603	1	0
PRRC2C	23215	broad.mit.edu	37	1	171506560	171506560	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:171506560G>C	ENST00000367742.3	+	15	2694	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q	PRRC2C_ENST00000392078.3_Missense_Mutation_p.E818Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E816Q|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E816Q			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	816							protein C-terminus binding	p.E818K(2)									TCCTCATGCTGAGCCTCAACA	0.408000													2	8					0	0	0.115264	0	0
CHD9	80205	broad.mit.edu	37	16	53358697	53358697	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:53358697C>T	ENST00000566029.1	+	39	8745	c.8536C>T	c.(8536-8538)Cct>Tct	p.P2846S	CHD9_ENST00000564845.1_Missense_Mutation_p.P2846S|CHD9_ENST00000447540.1_Missense_Mutation_p.P2847S|CHD9_ENST00000398510.3_Missense_Mutation_p.P2862S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2862					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAACCAAGTCCTCTCAATGA	0.398000													7	20					0	0	0.278610	0	0
AMER1	139285	broad.mit.edu	37	X	63411781	63411781	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:63411781T>C	ENST00000330258.3	-	2	1658	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	AMER1_ENST00000374869.3_Silent_p.E462E|AMER1_ENST00000403336.1_Silent_p.E462E	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E462E(1)									TGGGGGCGGATTCTTGCTGGT	0.547000													15	23					0	0	0.479597	0	0
CENPJ	55835	broad.mit.edu	37	13	25458151	25458151	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:25458151A>C	ENST00000381884.4	-	16	3959	c.3774T>G	c.(3772-3774)gaT>gaG	p.D1258E	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1258					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTCTTGTCCATCAGGAAATA	0.358000													27	94					0	0	0.717897	0	0
ARL13B	200894	broad.mit.edu	37	3	93714788	93714788	+	Splice_Site	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93714788G>A	ENST00000394222.3	+	2	405	c.130_splice	c.e2+1	p.E44_splice	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Splice_Site_p.E44_splice|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_3'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	44							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATCCAAGGAGGTAAGCTGAA	0.299000													16	28					0	0	0.500413	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198764	170198764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170198764T>C	ENST00000231706.4	-	7	1622	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	436						integral to membrane	amino acid transmembrane transporter activity	p.D436G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCATCAATGTCACTCTCAGG	0.498000													18	115					0	0	0.557998	0	0
HOXD3	3232	broad.mit.edu	37	2	177036256	177036256	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:177036256G>A	ENST00000468418.3	+	4	2643	c.553G>A	c.(553-555)Gag>Aag	p.E185K	HOXD3_ENST00000249440.3_Missense_Mutation_p.E185K|HOXD3_ENST00000410016.1_Missense_Mutation_p.E185K			P31249	HXD3_HUMAN	homeobox D3	185					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGAGAGCTGCGAGGACAAGAG	0.627000													5	33					0	0	0.248553	0	0
CHAF1B	8208	broad.mit.edu	37	21	37783871	37783871	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr21:37783871A>T	ENST00000314103.4	+	11	1181	c.1030A>T	c.(1030-1032)Ata>Tta	p.I344L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	344					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTGTCTAATATACATTACCA	0.537000													61	229					0	0	0.870114	0	0
LSAMP	4045	broad.mit.edu	37	3	115529219	115529219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:115529219G>A	ENST00000490035.1	-	7	1461	c.962C>T	c.(961-963)gCc>gTc	p.A321V	LSAMP_ENST00000539563.1_Missense_Mutation_p.A341V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	321					cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.A321V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGTGGTACGGCCAGACTGAT	0.423000													13	21					0	0	0.539581	0	0
SKAP2	8935	broad.mit.edu	37	7	26779555	26779555	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:26779555T>C	ENST00000345317.2	-	5	649	c.336A>G	c.(334-336)caA>caG	p.Q112Q	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	112					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						AAGGAAGGTCTTGTGCTGCAA	0.378000													11	45					0	0	0.387290	0	0
APC	324	broad.mit.edu	37	5	112173950	112173950	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112173950A>T	ENST00000457016.1	+	16	3039	c.2659A>T	c.(2659-2661)Att>Ttt	p.I887F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I887F|APC_ENST00000508376.2_Missense_Mutation_p.I887F			P25054	APC_HUMAN	adenomatous polyposis coli	887	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAGCCCAGATTGCCAAAGT	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	46					0	0	0.520397	0	0
FAM83C	128876	broad.mit.edu	37	20	33876620	33876620	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:33876620T>C	ENST00000374408.3	-	2	751	c.655A>G	c.(655-657)Atg>Gtg	p.M219V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	219								p.M219V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGGTCCATCTTGTAGCAC	0.642000													8	61					0	0	0.278610	0	0
COLEC12	81035	broad.mit.edu	37	18	346545	346545	+	Silent	SNP	C	C	T	rs147354214	byFrequency	TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:346545C>T	ENST00000400256.3	-	5	1284	c.1077G>A	c.(1075-1077)acG>acA	p.T359T		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	359					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGCTGGTCAGCGTCCGCAGGT	0.473000													16	55					0	0	0.479597	0	0
SNHG14	104472715	broad.mit.edu	37	15	25287155	25287155	+	RNA	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:25287155G>A	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TGAGGATGCTGAGGGACTCAT	0.458000													11	50					0	0	0.387290	0	0
KIAA1432	57589	broad.mit.edu	37	9	5713936	5713936	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:5713936G>C	ENST00000414202.2	+	4	564	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E46Q|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E46Q|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E125Q|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E46Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	125						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTTTAAGGAAGAACAGTGTGC	0.393000													16	73					0	0	0.520397	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377934	138377934	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:138377934C>T	ENST00000356818.2	+	4	2127	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.S526S|PPP1R26_ENST00000605660.1_Silent_p.S526S|PPP1R26_ENST00000604351.1_Silent_p.S526S|PPP1R26_ENST00000401470.3_Silent_p.S526S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	526						nucleolus	protein binding										GCGACAGTAGCTCCGTGGACA	0.627000													6	200					0	0	0.217242	0	0
DPH1	1801	broad.mit.edu	37	17	1939319	1939319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:1939319G>T	ENST00000263083.6	+	4	394	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	DPH1_ENST00000570477.1_Missense_Mutation_p.V37L|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	117					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.V117L(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCTGTGTGGATGACTT	0.647000													17	47					7.21436e-19	8.52607e-19	0.575678	1	0
MARCH7	64844	broad.mit.edu	37	2	160605112	160605112	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:160605112G>C	ENST00000259050.3	+	5	1433	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	MARCH7_ENST00000539065.1_Missense_Mutation_p.Q381H|MARCH7_ENST00000409591.1_Missense_Mutation_p.Q399H|MARCH7_ENST00000409175.1_Missense_Mutation_p.Q437H	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	437							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGAAGCACAGAATGATCCTC	0.448000													5	147					0	0	0.184627	0	0
PCLO	27445	broad.mit.edu	37	7	82583457	82583457	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:82583457G>T	ENST00000423517.2	-	5	7149	c.6812C>A	c.(6811-6813)tCt>tAt	p.S2271Y	PCLO_ENST00000333891.8_Missense_Mutation_p.S2271Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2202					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2202Y(1)|p.S2271Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGATAGAAGATGCCATATC	0.408000													25	84					6.36457e-07	7.02032e-07	0.667858	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530848	80530848	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:80530848G>C	ENST00000295057.3	-	2	753	c.97C>G	c.(97-99)Ccc>Gcc	p.P33A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P33A|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	33						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGGCGGGCAGCATCTGA	0.677000										HNSCC(69;0.2)			5	20					0	0	0.307466	0	0
SEMA3C	10512	broad.mit.edu	37	7	80439970	80439970	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:80439970G>A	ENST00000265361.3	-	6	1056	c.495C>T	c.(493-495)cgC>cgT	p.R165R	SEMA3C_ENST00000536800.1_Silent_p.R17R|SEMA3C_ENST00000419255.2_Silent_p.R165R|SEMA3C_ENST00000544525.1_Silent_p.R183R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	165	Sema.				immune response|response to drug	membrane	receptor activity	p.R165R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGAAAGAGCAGCGTCCTTTTC	0.353000													21	128					0	0	0.681144	0	0
WDR47	22911	broad.mit.edu	37	1	109554265	109554265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:109554265T>C	ENST00000357672.3	-	4	694	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	WDR47_ENST00000369962.3_Missense_Mutation_p.S135G|WDR47_ENST00000369965.4_Missense_Mutation_p.S135G|WDR47_ENST00000361054.3_Missense_Mutation_p.S107G|WDR47_ENST00000400794.3_Missense_Mutation_p.S142G			O94967	WDR47_HUMAN	WD repeat domain 47	135								p.S135G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CAGAGCTTACTATAGTCATCT	0.408000													44	180					0	0	0.847076	0	0
RARRES3	5920	broad.mit.edu	37	11	63312266	63312266	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63312266G>A	ENST00000439013.2	+	3	345	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.E98K|RARRES3_ENST00000354445.2_Missense_Mutation_p.E98K			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	98					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.E98K(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCTGCGAAGGAGATGGTTGG	0.517000													51	144					0	0	0.870114	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128881676	128881676	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:128881676A>G	ENST00000371106.3	+	7	776	c.584A>G	c.(583-585)gAg>gGg	p.E195G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	195					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.E195G(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGGGATCAGAGAGGCCACCG	0.522000													18	35					0	0	0.575678	0	0
OLFM3	118427	broad.mit.edu	37	1	102270141	102270141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:102270141G>A	ENST00000370103.4	-	6	1243	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	OLFM3_ENST00000338858.5_Nonsense_Mutation_p.Q364*|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	364	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTGCATTCTGGTTAGTTGCA	0.483000													11	68					0	0	0.387290	0	0
MBD5	55777	broad.mit.edu	37	2	149247786	149247786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:149247786C>T	ENST00000407073.1	+	12	4883	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.R1529*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1296						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAATAGACCTCGACAGAGTCG	0.413000													6	44					0	0	0.217242	0	0
MCCC2	64087	broad.mit.edu	37	5	70930987	70930987	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:70930987G>A	ENST00000340941.6	+	10	1042	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	MCCC2_ENST00000509358.2_Missense_Mutation_p.E305K|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.E267K	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	305	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGTCACCATTGAACCTTCTGA	0.373000													9	92					0	0	0.335167	0	0
FAT4	79633	broad.mit.edu	37	4	126402801	126402801	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:126402801G>T	ENST00000394329.3	+	15	12737	c.12724G>T	c.(12724-12726)Ggt>Tgt	p.G4242C	FAT4_ENST00000335110.5_Missense_Mutation_p.G2483C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4242	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4242C(1)|p.G4185C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGCCTTTTGGTGTGAACAG	0.433000													16	74					1.5739e-10	1.79031e-10	0.500413	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79738953	79738953	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:79738953G>A	ENST00000338008.5	+	5	2611	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.E811K|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.E811K	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	811					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGGCATTTGAAAGGATGAT	0.338000													26	143					0	0	0.750413	0	0
STX19	415117	broad.mit.edu	37	3	93733390	93733390	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93733390C>T	ENST00000315099.2	-	2	980	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	242	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTCCTTGTTCCTCTACTAAA	0.318000													6	56					0	0	0.217242	0	0
SH3RF1	57630	broad.mit.edu	37	4	170042098	170042098	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:170042098T>C	ENST00000284637.9	-	8	1730	c.1389A>G	c.(1387-1389)gaA>gaG	p.E463E	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	463	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.E463E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCAGCTCTAGTTCATCCTCTT	0.418000													26	73					0	0	0.706142	0	0
COL22A1	169044	broad.mit.edu	37	8	139696679	139696679	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:139696679G>T	ENST00000303045.6	-	39	3447	c.3001C>A	c.(3001-3003)Cta>Ata	p.L1001I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1001I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1001	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.L1001I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGTTCCTAGGGGTCCAGGG	0.488000										HNSCC(7;0.00092)			52	264					6.20943e-19	7.38638e-19	0.870114	1	0
PTPRF	5792	broad.mit.edu	37	1	44058140	44058140	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:44058140T>C	ENST00000359947.4	+	11	2021	c.1681T>C	c.(1681-1683)Ttc>Ctc	p.F561L	PTPRF_ENST00000372413.3_Missense_Mutation_p.F561L|PTPRF_ENST00000422171.2_Missense_Mutation_p.F20L|PTPRF_ENST00000372414.3_Missense_Mutation_p.F561L|PTPRF_ENST00000438120.1_Missense_Mutation_p.F561L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.F551L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAAGGTGACCTTCGACCCAAC	0.572000													50	164					0	0	0.870114	0	0
ECT2	1894	broad.mit.edu	37	3	172482216	172482216	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:172482216C>T	ENST00000417960.1	+	12	1598	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	ECT2_ENST00000392692.3_Missense_Mutation_p.S406L|ECT2_ENST00000441497.2_Missense_Mutation_p.S375L|ECT2_ENST00000540509.1_Missense_Mutation_p.S406L|ECT2_ENST00000232458.5_Missense_Mutation_p.S375L|ECT2_ENST00000427830.1_Missense_Mutation_p.S375L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	375					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCGCCCATCAGCTGAGCAT	0.453000													6	191					0	0	0.248553	0	0
PEG3	5178	broad.mit.edu	37	19	57325748	57325748	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57325748A>T	ENST00000326441.9	-	10	4425	c.4062T>A	c.(4060-4062)caT>caA	p.H1354Q	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1230Q|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1228Q|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1354Q|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1354	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1354Q(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTTCCAGATGAAGCTCCT	0.453000													23	60					0	0	0.624587	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68344358	68344358	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:68344358G>T	ENST00000263997.6	-	2	369	c.351C>A	c.(349-351)agC>agA	p.S117R		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	117					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		ACTCCTGGCCGCTCGAGGTGG	0.672000													5	12					0.00116845	0.00122217	0.217242	1	0
LMX1A	4009	broad.mit.edu	37	1	165173278	165173278	+	Splice_Site	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:165173278C>T	ENST00000342310.3	-	9	1371		c.e9-1		LMX1A_ENST00000367893.4_Splice_Site|LMX1A_ENST00000294816.2_Splice_Site|LMX1A_ENST00000489443.2_Splice_Site	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGCTCGGCACCTGAAATGGAG	0.507000													17	79					0	0	0.557998	0	0
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:100682001G>C	ENST00000306151.4	+	3	7368	c.7304G>C	c.(7303-7305)aGt>aCt	p.S2435T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2435	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGAAGCCAGTTCATCTCCT	0.547000													22	474					0	0	0.870114	0	0
DICER1	23405	broad.mit.edu	37	14	95560403	95560403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:95560403G>T	ENST00000526495.1	-	26	5477	c.5186C>A	c.(5185-5187)cCg>cAg	p.P1729Q	DICER1_ENST00000527414.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000393063.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000343455.3_Missense_Mutation_p.P1729Q|DICER1_ENST00000556045.1_Missense_Mutation_p.P627Q|DICER1_ENST00000541352.1_Missense_Mutation_p.P1729Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1729	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.P1729L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGACCCCCGGGGAGTGCTG	0.522000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	99					2.0095e-06	2.18999e-06	0.248553	1	0
LPP	4026	broad.mit.edu	37	3	188590462	188590462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:188590462G>T	ENST00000312675.4	+	10	1867	c.1621G>T	c.(1621-1623)Gag>Tag	p.E541*	LPP_ENST00000543006.1_Nonsense_Mutation_p.E541*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	541	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGTGTGCAAGGAGCCTATTAT	0.532000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								9	154					2.80697e-09	3.1731e-09	0.387290	1	0
SLC2A12	154091	broad.mit.edu	37	6	134323170	134323170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:134323170G>T	ENST00000275230.5	-	4	1820	c.1665C>A	c.(1663-1665)tgC>tgA	p.C555*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	555						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.C555*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTTCCAAAGAGCATCCCTTTG	0.363000													16	67					1.3612e-06	1.4924e-06	0.479597	1	0
EXOC8	149371	broad.mit.edu	37	1	231472440	231472440	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:231472440C>T	ENST00000366645.1	-	1	1158	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	EXOC8_ENST00000360394.2_Missense_Mutation_p.R351K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	351					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTCAAAGTCTCTCTGCGCAAT	0.498000													28	132					0	0	0.693898	0	0
NPAS4	266743	broad.mit.edu	37	11	66192180	66192180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:66192180G>T	ENST00000311034.2	+	7	1995	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	607					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTGGTGCCCGAAGGCCTGCT	0.592000													20	349					2.37509e-13	2.75329e-13	0.592651	1	0
SETX	23064	broad.mit.edu	37	9	135140296	135140296	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:135140296T>C	ENST00000372169.2	-	27	7633	c.7451A>G	c.(7450-7452)tAt>tGt	p.Y2484C	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.Y2422C|SETX_ENST00000224140.5_Missense_Mutation_p.Y2455C			Q7Z333	SETX_HUMAN	senataxin	2455					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.Y2455C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCATGTCTATAGTTTTTGTC	0.478000													58	117					0	0	0.870114	0	0
TNIK	23043	broad.mit.edu	37	3	170802049	170802049	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170802049C>A	ENST00000436636.2	-	26	3408	c.3064G>T	c.(3064-3066)Gtg>Ttg	p.V1022L	TNIK_ENST00000357327.5_Missense_Mutation_p.V993L|TNIK_ENST00000341852.6_Missense_Mutation_p.V938L|TNIK_ENST00000284483.8_Missense_Mutation_p.V1014L|TNIK_ENST00000460047.1_Missense_Mutation_p.V959L|TNIK_ENST00000488470.1_Missense_Mutation_p.V967L|TNIK_ENST00000369326.5_Missense_Mutation_p.V1000L|TNIK_ENST00000475336.1_Missense_Mutation_p.V930L|TNIK_ENST00000538048.1_Missense_Mutation_p.V974L|TNIK_ENST00000470834.1_Missense_Mutation_p.V985L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1022	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATTTACCACCGAAATCTTT	0.403000													12	190					0.00136819	0.00142292	0.411799	1	0
LCK	3932	broad.mit.edu	37	1	32745441	32745441	+	Splice_Site	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32745441G>A	ENST00000333070.4	+	11	1231		c.e11-1		LCK_ENST00000373564.3_Splice_Site|LCK_ENST00000336890.5_Splice_Site	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase						activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TTGGCCTGCAGATTGCAGAAG	0.542000			T	TRB@	T-ALL								20	142					0	0	0.575678	0	0
IWS1	55677	broad.mit.edu	37	2	128263073	128263073	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128263073C>G	ENST00000295321.4	-	3	665	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	IWS1_ENST00000455721.2_Missense_Mutation_p.E143Q|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	136	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGAAGTTCCTCATTTTCAGAG	0.483000													22	174					0	0	0.608945	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158435	102158435	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102158435T>C	ENST00000299314.7	-	13	2522	c.2260A>G	c.(2260-2262)Ata>Gta	p.I754V		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	754					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCATCTGTTATTATAGCTTGA	0.383000													19	69					0	0	0.539581	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221394	10221394	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10221394G>A	ENST00000428358.1	+	11	1225	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	PPAN_ENST00000253107.7_Missense_Mutation_p.M351I|PPAN_ENST00000556468.1_Missense_Mutation_p.M351I|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M351I|PPAN_ENST00000393793.1_Missense_Mutation_p.M298I	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		351					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGAGGGCATGAAGAAGGCAC	0.627000													16	63					0	0	0.500413	0	0
NEUROG1	4762	broad.mit.edu	37	5	134870804	134870804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:134870804C>T	ENST00000314744.4	-	1	835	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	193					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGGGGAGGCGGCGGCGGCA	0.721000													14	32					0	0	0.479597	0	0
KDM5B	10765	broad.mit.edu	37	1	202724420	202724420	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:202724420T>A	ENST00000367265.3	-	11	2681	c.1517A>T	c.(1516-1518)tAt>tTt	p.Y506F	KDM5B_ENST00000367264.2_Missense_Mutation_p.Y542F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	506	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Y506F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTAATTGAATAGCTCCAGTG	0.403000													32	92					0	0	0.769981	0	0
CLK1	1195	broad.mit.edu	37	2	201726073	201726073	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:201726073T>A	ENST00000434813.2	-	3	738	c.404A>T	c.(403-405)cAt>cTt	p.H135L	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Missense_Mutation_p.H93L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	93					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.H93L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCGGCTTTCATGGTCTCTTTG	0.408000													68	226					0	0	0.870114	0	0
KBTBD4	55709	broad.mit.edu	37	11	47594881	47594881	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:47594881C>T	ENST00000533290.1	-	3	1947	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	KBTBD4_ENST00000526005.1_Silent_p.E386E|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Silent_p.E402E|KBTBD4_ENST00000395288.2_Silent_p.E386E|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GATCATTCTCCTCCCCCCCTA	0.512000													27	94					0	0	0.717897	0	0
MUS81	80198	broad.mit.edu	37	11	65631171	65631171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:65631171G>C	ENST00000308110.4	+	9	1289	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MUS81_ENST00000533035.1_Missense_Mutation_p.E239Q	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	314	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGTGGCCCAGGAGACCAATCC	0.657000								Homologous recombination					10	109					0	0	0.411799	0	0
BCAR3	8412	broad.mit.edu	37	1	94037258	94037258	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:94037258G>C	ENST00000370244.1	-	11	2231	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	BCAR3_ENST00000370243.1_Nonsense_Mutation_p.S648*|BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S557*|BCAR3_ENST00000539242.1_Nonsense_Mutation_p.S324*|BCAR3_ENST00000260502.6_Nonsense_Mutation_p.S648*	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	648	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATGAGAGCTGAGAAGGAATA	0.478000													25	128					0	0	0.681144	0	0
SCN9A	6335	broad.mit.edu	37	2	167141152	167141152	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:167141152C>T	ENST00000375387.4	-	12	2128	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q	SCN9A_ENST00000303354.6_Silent_p.Q596Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.Q595Q|SCN9A_ENST00000409435.1_Silent_p.Q595Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	595						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q595Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCGTCGCTCCTGGGGTCTGT	0.537000													17	75					0	0	0.520397	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510090	77510090	+	Missense_Mutation	SNP	A	A	G	rs34735755		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:77510090A>G	ENST00000477717.1	+	3	698	c.463A>G	c.(463-465)Aac>Gac	p.N155D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	155					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GATCCTCCGCAACCGCCATGA	0.637000													15	58					0	0	0.479597	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427043	27427043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:27427043C>A	ENST00000263980.3	-	12	2778	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	SLC9A1_ENST00000545949.1_Nonsense_Mutation_p.E396*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	735					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.E735*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCAGCTCTTCATTCACCAGG	0.607000													111	325					5.55186e-77	6.87373e-77	0.870114	1	0
ESX1	80712	broad.mit.edu	37	X	103498950	103498950	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:103498950C>T	ENST00000372588.4	-	2	474	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	131					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGTGGTCCCTCAGCGGTTTGT	0.647000													4	27					0	0	0.278610	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081528	143081528	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:143081528G>T	ENST00000367603.2	-	9	6639	c.5897C>A	c.(5896-5898)tCt>tAt	p.S1966Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1966Y|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1966Y	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATCAACGAAGAATGTCCCAG	0.483000													35	115					4.3181e-19	5.2046e-19	0.769981	1	0
ASNS	440	broad.mit.edu	37	7	97482673	97482673	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:97482673C>T	ENST00000175506.4	-	12	1792	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	ASNS_ENST00000437628.1_Missense_Mutation_p.D339N|ASNS_ENST00000394309.3_Missense_Mutation_p.D422N|ASNS_ENST00000455086.1_Missense_Mutation_p.D339N|ASNS_ENST00000444334.1_Missense_Mutation_p.D401N|ASNS_ENST00000394308.3_Missense_Mutation_p.D422N|ASNS_ENST00000422745.1_Missense_Mutation_p.D401N	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	422	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATCGATGATCTAGAAATGGG	0.368000													26	69					0	0	0.729181	0	0
GLRA3	8001	broad.mit.edu	37	4	175710093	175710093	+	Splice_Site	SNP	A	A	G	rs144360619		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:175710093A>G	ENST00000274093.3	-	2	575	c.71_splice	c.e2-1	p.L25_splice	GLRA3_ENST00000340217.5_Splice_Site_p.L25_splice	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	25					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGGCAACCAAACTACAAATA	0.323000													7	38					0	0	0.307466	0	0
FMN2	56776	broad.mit.edu	37	1	240493979	240493979	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:240493979A>T	ENST00000319653.9	+	11	4744	c.4514A>T	c.(4513-4515)aAt>aTt	p.N1505I	FMN2_ENST00000545751.1_Missense_Mutation_p.N101I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1505	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	p.N1648I(1)		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)			AATGGAGGAAATAAGACTCGA	0.403000													29	93					0	0	0.717897	0	0
PIBF1	10464	broad.mit.edu	37	13	73366606	73366606	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:73366606C>G	ENST00000326291.6	+	3	612	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	92						centrosome		p.L92V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GGAGGAGAAACTTAATGATGC	0.284000													9	67					0	0	0.335167	0	0
SHANK1	50944	broad.mit.edu	37	19	51165265	51165265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:51165265C>T	ENST00000293441.1	-	23	6461	c.6443G>A	c.(6442-6444)cGc>cAc	p.R2148H	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139H|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156H|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2148	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GATGTTCATGCGGTGGCCCAC	0.617000													16	108					0	0	0.539581	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167198	140167198	+	Silent	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:140167198G>T	ENST00000504120.2	+	1	1323	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	PCDHA1_ENST00000378133.3_Silent_p.V441V|PCDHA1_ENST00000394633.3_Silent_p.V441V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGGGTGTCCGTGGAGG	0.662000													7	124					1.12685e-05	1.20639e-05	0.307466	1	0
SLC22A12	116085	broad.mit.edu	37	11	64366325	64366325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64366325C>T	ENST00000377574.1	+	6	1747	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC22A12_ENST00000473690.1_Missense_Mutation_p.P113S|SLC22A12_ENST00000377567.2_Missense_Mutation_p.P226S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.P300S|SLC22A12_ENST00000377572.1_Missense_Mutation_p.P226S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	334					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGGCCAGCCTCCTGCCAGCCT	0.672000													4	71					0	0	0.150653	0	0
ATP2C1	27032	broad.mit.edu	37	3	130718428	130718428	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:130718428A>C	ENST00000510168.1	+	27	3104	c.2554A>C	c.(2554-2556)Atc>Ctc	p.I852L	ATP2C1_ENST00000508532.1_Missense_Mutation_p.I852L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I836L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I797L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I852L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I852L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I886L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I847L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I852L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I852L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I836L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	852					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TCTTGGATCCATCATGGGACA	0.393000									Hailey-Hailey disease				21	123					0	0	0.575678	0	0
ROS1	6098	broad.mit.edu	37	6	117630083	117630083	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:117630083C>A	ENST00000368508.3	-	41	6641	c.6443G>T	c.(6442-6444)gGa>gTa	p.G2148V	ROS1_ENST00000368507.3_Missense_Mutation_p.G2142V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2148	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCAGAATTCCAAAAGACCT	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	53					6.31663e-08	7.00992e-08	0.479597	1	0
ACAD10	80724	broad.mit.edu	37	12	112184876	112184876	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:112184876C>A	ENST00000455480.2	+	16	2550	c.2373C>A	c.(2371-2373)gaC>gaA	p.D791E	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D362E|ACAD10_ENST00000313698.4_Missense_Mutation_p.D760E	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	760							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGCGCCTGACACGGGCAACA	0.542000													3	61					0.115264	0.11852	0.115264	1	0
TFAP2A	7020	broad.mit.edu	37	6	10404781	10404781	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:10404781C>T	ENST00000379613.3	-	4	986	c.730G>A	c.(730-732)Gag>Aag	p.E244K	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238K|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E242K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706000													6	11					0	0	0.217242	0	0
ZNF883	169834	broad.mit.edu	37	9	115760233	115760233	+	RNA	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:115760233C>A	ENST00000427548.1	-	0	1580							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGTTTTTTCACATTCATTA	0.378000													13	62					9.31168e-06	1.0028e-05	0.435327	1	0
TYW5	129450	broad.mit.edu	37	2	200801155	200801155	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:200801155G>C	ENST00000354611.4	-	6	812	c.547C>G	c.(547-549)Cga>Gga	p.R183G	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	183	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TGGGCATCTCGAGGACTGAAG	0.299000													6	213					0	0	0.248553	0	0
CHPT1	56994	broad.mit.edu	37	12	102091698	102091698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102091698C>T	ENST00000549872.1	+	1	249	c.59C>T	c.(58-60)cCg>cTg	p.P20L	CHPT1_ENST00000550385.1_Intron|CHPT1_ENST00000229266.3_Missense_Mutation_p.P20L			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	20					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CTGAGCGAGCCGCTGAGCGCG	0.796000													3	6					0	0	0.115264	0	0
LCK	3932	broad.mit.edu	37	1	32740021	32740021	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32740021G>T	ENST00000333070.4	+	2	191	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	LCK_ENST00000373564.3_Missense_Mutation_p.D31Y|LCK_ENST00000336890.5_Missense_Mutation_p.D31Y	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	31	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGTCCCACTGGATGGCAAGGG	0.552000			T	TRB@	T-ALL								9	72					1.76689e-08	1.98503e-08	0.335167	1	0
TNKS2	80351	broad.mit.edu	37	10	93586790	93586790	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:93586790A>G	ENST00000371627.4	+	8	1191	c.812A>G	c.(811-813)aAt>aGt	p.N271S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	271					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCCTGTGTAAATGCAATGGAC	0.368000													15	81					0	0	0.479597	0	0
TLR5	7100	broad.mit.edu	37	1	223284063	223284063	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:223284063C>T	ENST00000540964.1	-	4	2772	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	TLR5_ENST00000342210.6_Missense_Mutation_p.A771T			O60602	TLR5_HUMAN	toll-like receptor 5	771	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.A771T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAACTGAAGGCTTCAAGGCAC	0.483000													11	45					0	0	0.411799	0	0
PARP16	54956	broad.mit.edu	37	15	65555578	65555578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:65555578C>T	ENST00000261888.6	-	4	1045	c.600G>A	c.(598-600)tgG>tgA	p.W200*	PARP16_ENST00000444347.2_Nonsense_Mutation_p.W85*	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	200	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGCTGTGCTGCCACCCATGGC	0.582000													11	43					0	0	0.387290	0	0
SNORA60	677837	broad.mit.edu	37	20	37078059	37078059	+	RNA	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:37078059A>G	ENST00000362396.1	+	0	47					NR_002986.1																						CTGGTCATCAATAACGCAGGG	0.507000													77	287					0	0	0.870114	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122966496	122966496	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:122966496T>C	ENST00000543897.1	-	7	2512	c.157A>G	c.(157-159)Att>Gtt	p.I53V	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.I53V|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.I291V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	291						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.I291V(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TAGTACCTAATAACTCCTGGC	0.383000													8	26					0	0	0.278610	0	0
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:97779539C>T	ENST00000420699.2	+	1	307	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ANKRD36_ENST00000461153.2_Silent_p.F21F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512000													5	140					0	0	0.184627	0	0
MPI	4351	broad.mit.edu	37	15	75189376	75189376	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:75189376C>T	ENST00000352410.4	+	7	936	c.869C>T	c.(868-870)tCa>tTa	p.S290L	MPI_ENST00000535694.1_Missense_Mutation_p.S240L|MPI_ENST00000323744.6_Missense_Mutation_p.S229L|MPI_ENST00000563786.1_Missense_Mutation_p.S270L|MPI_ENST00000566377.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	290					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.S290L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCGTGTTCAGACAACACA	0.537000													48	148					0	0	0.870114	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430645	25430645	+	RNA	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:25430645G>A	ENST00000424208.1	+	0	506					NR_003305.1																						ACCAGTGTCTGCCAGCCACGT	0.582000													9	35					0	0	0.307466	0	0
ATM	472	broad.mit.edu	37	11	108224518	108224518	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:108224518C>G	ENST00000278616.4	+	60	9082	c.8697C>G	c.(8695-8697)atC>atG	p.I2899M	ATM_ENST00000452508.2_Missense_Mutation_p.I2899M|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2899	PI3K/PI4K.				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)		AGGGCAAAATCCTTCCTACTC	0.398000			"""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)			85	115					0	0	0.870114	0	0
SNX8	29886	broad.mit.edu	37	7	2296595	2296595	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:2296595C>G	ENST00000222990.3	-	10	1240	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	400					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGCTGCGTCTCCTGGTGCAGG	0.622000													4	29					0	0	0.184627	0	0
NAALADL1	10004	broad.mit.edu	37	11	64813578	64813578	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64813578C>A	ENST00000358658.3	-	16	1891	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L	NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.V587L|NAALADL1_ENST00000355721.3_Missense_Mutation_p.V581L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.V673L|NAALADL1_ENST00000526799.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	622					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.V622L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACTGCAGTCACCAGAGGCCCT	0.607000													20	76					7.45023e-12	8.52793e-12	0.592651	1	0
C20orf194	25943	broad.mit.edu	37	20	3321254	3321254	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:3321254T>C	ENST00000252032.9	-	10	945	c.878A>G	c.(877-879)aAt>aGt	p.N293S	C20orf194_ENST00000453730.2_Missense_Mutation_p.N32S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	293										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTGGAGTGATTACCAAAGAG	0.493000													8	44					0	0	0.335167	0	0
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1354					intracellular signal transduction			p.A1354A(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctctaactgcgcctcttctt	0.478000													34	90					0	0	0.750413	0	0
MDGA2	161357	broad.mit.edu	37	14	47504386	47504386	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:47504386C>A	ENST00000426342.1	-	8	1499	c.753G>T	c.(751-753)gcG>gcT	p.A251A	MDGA2_ENST00000357362.3_Silent_p.A251A|MDGA2_ENST00000399232.2_Silent_p.A549A|MDGA2_ENST00000439988.2_Silent_p.A480A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	480	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.A251A(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTTCTTTATCCGCTCTAGACC	0.413000													55	230					6.20943e-19	7.38638e-19	0.870114	1	0
UNC13B	10497	broad.mit.edu	37	9	35403770	35403770	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:35403770G>A	ENST00000378495.3	+	39	4738	c.4516G>A	c.(4516-4518)Gag>Aag	p.E1506K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E1537K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1525K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1506	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGGGCCCGAGTCCTATGA	0.552000													18	54					0	0	0.557998	0	0
RFX3	5991	broad.mit.edu	37	9	3293119	3293119	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:3293119C>T	ENST00000382004.3	-	7	1000	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RFX3_ENST00000302303.1_Missense_Mutation_p.R230K|RFX3_ENST00000358730.2_Missense_Mutation_p.R230K	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	230					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAAAATTGATCTTATTAATTT	0.408000													19	91					0	0	0.575678	0	0
SLC12A2	6558	broad.mit.edu	37	5	127420048	127420048	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:127420048A>T	ENST00000262461.2	+	1	591	c.402A>T	c.(400-402)gaA>gaT	p.E134D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E134D	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	134					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCAGCGAGGAAGCCAAGGGCC	0.726000													3	9					0	0	0.115264	0	0
FERMT3	83706	broad.mit.edu	37	11	63990913	63990913	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63990913G>A	ENST00000279227.5	+	15	2048	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	FERMT3_ENST00000345728.5_Silent_p.E647E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	651					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTGGGGAGGAGCTGGATGAAG	0.622000													16	43					0	0	0.539581	0	0
IWS1	55677	broad.mit.edu	37	2	128244226	128244226	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128244226C>T	ENST00000295321.4	-	13	2490	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000598065.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	744					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCAGGATCTCCAGGTCTAAG	0.507000													5	52					0	0	0.184627	0	0
DOCK9	23348	broad.mit.edu	37	13	99476724	99476724	+	Silent	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:99476724G>C	ENST00000376460.1	-	46	5138	c.5058C>G	c.(5056-5058)gtC>gtG	p.V1686V	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.V1687V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1687	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V1687V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGGGTAATGACCCTGAAGG	0.537000													33	138					0	0	0.779181	0	0
HDX	139324	broad.mit.edu	37	X	83599378	83599378	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:83599378G>C	ENST00000297977.5	-	6	1651	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	HDX_ENST00000373177.2_Missense_Mutation_p.Q514E|HDX_ENST00000506585.2_Missense_Mutation_p.Q456E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q514E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACTCAGGCTGCTCAGAGAAA	0.448000													24	25					0	0	0.654019	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191117	185191117	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:185191117C>T	ENST00000265026.3	+	11	2332	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	MAP3K13_ENST00000535426.1_Silent_p.C522C|MAP3K13_ENST00000446828.1_Silent_p.C459C|MAP3K13_ENST00000443863.1_Silent_p.C522C|MAP3K13_ENST00000424227.1_Silent_p.C666C	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	666					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.C666C(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGCAACCTGCGCCAACAACC	0.587000													123	173					0	0	0.870114	0	0
DLST	1743	broad.mit.edu	37	14	75367830	75367830	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:75367830G>A	ENST00000334220.4	+	14	1182	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	DLST_ENST00000334212.6_Missense_Mutation_p.G288E	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	374					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.G374E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ATTAGCAATGGAGGCGTTTTT	0.473000													21	94					0	0	0.608945	0	0
CEP250	11190	broad.mit.edu	37	20	34054812	34054812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:34054812G>A	ENST00000397527.1	+	8	1234	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	CEP250_ENST00000342580.4_Missense_Mutation_p.G172R|CEP250_ENST00000397524.1_Missense_Mutation_p.G172R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	172					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTACCTGAAAGGGGAGCACGG	0.527000													23	98					0	0	0.729181	0	0
NUP214	8021	broad.mit.edu	37	9	134010311	134010311	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:134010311A>G	ENST00000359428.5	+	8	1002	c.858A>G	c.(856-858)atA>atG	p.I286M	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	286					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.I286M(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACCCAGAGATATTTGTGAACT	0.398000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								13	73					0	0	0.500413	0	0
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	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.R361H(12)|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)		GGAGGAGATCGCTTTTGTTTG	0.413000													16	63					0	0	0.500413	0	0
LCK	3932	broad.mit.edu	37	1	32739961	32739961	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32739961G>A	ENST00000333070.4	+	2	131	c.31G>A	c.(31-33)Gat>Aat	p.D11N	LCK_ENST00000373564.3_Missense_Mutation_p.D11N|LCK_ENST00000336890.5_Missense_Mutation_p.D11N	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	11	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ACACCCGGAAGATGACTGGAT	0.567000			T	TRB@	T-ALL								11	83					0	0	0.435327	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	49					0	0	0.217242	0	0
S1PR2	9294	broad.mit.edu	37	19	10335464	10335464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10335464T>A	ENST00000590320.1	-	2	228	c.118A>T	c.(118-120)Atc>Ttc	p.I40F		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	40					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.I40F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGATGACGATGAAGGCCGAG	0.552000													43	235					0	0	0.870114	0	0
ZFPM1	161882	broad.mit.edu	37	16	88601319	88601319	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:88601319A>T	ENST00000319555.3	+	10	3275	c.2953A>T	c.(2953-2955)Agc>Tgc	p.S985C		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	985					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAAGTTCAGCAGCCTGTCCAC	0.622000													24	68					0	0	0.654019	0	0
TP63	8626	broad.mit.edu	37	3	189526287	189526287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:189526287C>T	ENST00000264731.3	+	4	640	c.551C>T	c.(550-552)tCg>tTg	p.S184L	TP63_ENST00000392461.3_Missense_Mutation_p.S90L|TP63_ENST00000320472.5_Missense_Mutation_p.S184L|TP63_ENST00000392460.3_Missense_Mutation_p.S184L|TP63_ENST00000437221.1_Missense_Mutation_p.S90L|TP63_ENST00000449992.1_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.S90L|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.S184L|TP63_ENST00000456148.1_Missense_Mutation_p.S90L|TP63_ENST00000354600.5_Missense_Mutation_p.S90L|TP63_ENST00000418709.2_Missense_Mutation_p.S184L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	184			S -> L (in head and neck cancer).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S184L(1)|p.S184W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCAGTCGAGCACCGCC	0.627000										HNSCC(45;0.13)			19	108					0	0	0.575678	0	0
NMT2	9397	broad.mit.edu	37	10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:15175327C>G	ENST00000378165.4	-	4	507	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NMT2_ENST00000535341.1_Missense_Mutation_p.D130H|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000378150.1_Missense_Mutation_p.D130H|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.D143H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGTCTTTATCTGGTTCAATT	0.398000													24	109					0	0	0.681144	0	0
ZNF253	56242	broad.mit.edu	37	19	20003522	20003522	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:20003522T>C	ENST00000589717.1	+	4	1558	c.1466T>C	c.(1465-1467)tTa>tCa	p.L489S	ZNF253_ENST00000355650.4_Missense_Mutation_p.L413S|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	489					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L489S(1)|p.L461S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGATCTTTTAAATGTTCCT	0.363000													18	68					0	0	0.575678	0	0
KCNA4	3739	broad.mit.edu	37	11	30032400	30032400	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:30032400G>A	ENST00000328224.6	-	2	3059	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	609						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S609L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TAGATACTCTGACTTGTCCCC	0.463000													18	82					0	0	0.575678	0	0
SATB2	23314	broad.mit.edu	37	2	200246428	200246428	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:200246428G>C	ENST00000443023.1	-	3	1750	c.285C>G	c.(283-285)atC>atG	p.I95M	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000417098.1_Missense_Mutation_p.I154M|SATB2_ENST00000457245.1_Missense_Mutation_p.I154M|SATB2_ENST00000260926.5_Missense_Mutation_p.I154M|SATB2_ENST00000428695.1_Intron			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	154						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTGTAATTGGATTTTCAACG	0.473000													5	137					0	0	0.184627	0	0
OR8J1	219477	broad.mit.edu	37	11	56127847	56127847	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:56127847A>T	ENST00000303039.3	+	1	157	c.125A>T	c.(124-126)aAc>aTc	p.N42I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGGCAGGGAACCTGGGCATC	0.493000													34	132					0	0	0.769981	0	0
BBX	56987	broad.mit.edu	37	3	107517519	107517519	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:107517519C>T	ENST00000415149.2	+	15	2740	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	BBX_ENST00000325805.8_Missense_Mutation_p.L835F|BBX_ENST00000416476.2_Silent_p.T498T|BBX_ENST00000406780.1_Missense_Mutation_p.L805F|BBX_ENST00000402543.1_Missense_Mutation_p.L785F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATTACACACCTTGTCAGGAC	0.473000													3	70					0	0	0.115264	0	0
RNH1	6050	broad.mit.edu	37	11	494726	494726	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:494726C>G	ENST00000534797.1	-	9	2758	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	RNH1_ENST00000397604.3_Missense_Mutation_p.E451Q|RNH1_ENST00000356187.5_Missense_Mutation_p.E451Q|RNH1_ENST00000438658.2_Missense_Mutation_p.E451Q|RNH1_ENST00000354420.2_Missense_Mutation_p.E451Q|RNH1_ENST00000533410.1_Missense_Mutation_p.E451Q|RNH1_ENST00000397614.1_Missense_Mutation_p.E451Q|RNH1_ENST00000397615.2_Missense_Mutation_p.E451Q			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	451					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.E451Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGTCCTTCTCCAGGGCCTGC	0.657000													21	131					0	0	0.654019	0	0
CPNE8	144402	broad.mit.edu	37	12	39223185	39223185	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:39223185T>A	ENST00000331366.5	-	6	499	c.403A>T	c.(403-405)Ata>Tta	p.I135L	CPNE8_ENST00000360449.3_Missense_Mutation_p.I123L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	135								p.I135L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACTTACACTATTGGTTTTTCC	0.363000													46	213					0	0	0.870114	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21745031	21745031	+	Silent	SNP	C	C	T	rs143353189		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:21745031C>T	ENST00000319481.3	-	27	2954	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	OSBPL1A_ENST00000399443.3_Silent_p.T403T|OSBPL1A_ENST00000357041.4_Silent_p.T534T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.T916T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GCACGCACCTCGTCTTCCAGT	0.532000													69	262					0	0	0.870114	0	0
OR5L1	219437	broad.mit.edu	37	11	55579185	55579185	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:55579185G>T	ENST00000333973.2	+	1	332	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCCAAAAATGTTGGCTAATA	0.458000													64	246					1.69475e-38	2.08409e-38	0.870114	1	0
EPHA7	2045	broad.mit.edu	37	6	94120846	94120846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:94120846G>A	ENST00000369303.4	-	3	389	c.205C>T	c.(205-207)Cga>Tga	p.R69*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.R69*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGTATGTTCGTATCGGGGTA	0.393000													31	99					0	0	0.779181	0	0
FAM173A	65990	broad.mit.edu	37	16	772479	772479	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:772479C>T	ENST00000569529.1	+	5	930	c.630C>T	c.(628-630)tcC>tcT	p.S210S	FAM173A_ENST00000219535.3_Silent_p.S193S|FAM173A_ENST00000564000.1_3'UTR	NM_023933.1	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	210						integral to membrane				pancreas(1)	1						AGGCCGCCTCCTCGCGGATAC	0.637000													13	30					0	0	0.457914	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778584	31778584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:31778584T>C	ENST00000375654.4	-	2	1355	c.1166A>G	c.(1165-1167)aAg>aGg	p.K389R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.K389R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	389					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCTGTACCTTCTCAGACTT	0.587000													16	71					0	0	0.639603	0	0
PCDH15	65217	broad.mit.edu	37	10	55591229	55591229	+	Missense_Mutation	SNP	G	G	A	rs138398244		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:55591229G>A	ENST00000373965.2	-	31	4463	c.4069C>T	c.(4069-4071)Cgc>Tgc	p.R1357C	PCDH15_ENST00000409834.1_Missense_Mutation_p.R961C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1350C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1350					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1355C(2)|p.R1350C(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGAATGCGTCCTCCTTCC	0.413000										HNSCC(58;0.16)			22	92					0	0	0.624587	0	0
MCC	4163	broad.mit.edu	37	5	112458453	112458453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112458453G>A	ENST00000302475.4	-	4	948	c.385C>T	c.(385-387)Cga>Tga	p.R129*	MCC_ENST00000515367.2_Nonsense_Mutation_p.R66*|MCC_ENST00000408903.3_Nonsense_Mutation_p.R319*|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	129					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCATGCTTCGAGAGTCCTCG	0.522000													6	60					0	0	0.248553	0	0
ZNF667	63934	broad.mit.edu	37	19	56952944	56952944	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:56952944C>T	ENST00000504904.3	-	7	2139	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	ZNF667_ENST00000342634.3_Missense_Mutation_p.E602K|ZNF667_ENST00000292069.6_Missense_Mutation_p.E474K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCACATTCCTCACACTGGTAG	0.398000													20	102					0	0	0.592651	0	0
PTPRD	5789	broad.mit.edu	37	9	8633337	8633337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:8633337G>T	ENST00000381196.4	-	11	875	c.332C>A	c.(331-333)aCc>aAc	p.T111N	PTPRD_ENST00000486161.1_Missense_Mutation_p.T111N|PTPRD_ENST00000356435.5_Missense_Mutation_p.T111N|PTPRD_ENST00000355233.5_Missense_Mutation_p.T111N|PTPRD_ENST00000397606.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397617.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397611.3_Missense_Mutation_p.T111N|PTPRD_ENST00000463477.1_Missense_Mutation_p.T111N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T111N|PTPRD_ENST00000360074.4_Missense_Mutation_p.T111N|PTPRD_ENST00000537002.1_Missense_Mutation_p.T111N|PTPRD_ENST00000358503.5_Missense_Mutation_p.T111N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	111	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTGAGTCTGGTGGATACACT	0.423000										TSP Lung(15;0.13)			34	108					6.97489e-18	8.18987e-18	0.804634	1	0
ITGAV	3685	broad.mit.edu	37	2	187455218	187455218	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCGGCTTCGCCGTGGATT	0.637000													15	50					0	0	0.457914	0	0
ATAD2B	54454	broad.mit.edu	37	2	24009039	24009039	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:24009039A>T	ENST00000238789.5	-	21	3174	c.2831T>A	c.(2830-2832)tTa>tAa	p.L944*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	944							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTCTGATAATTGACGAGG	0.443000													9	13					0	0	0.335167	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185605	6185605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:6185605C>T	ENST00000588304.1	+	11	1777	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	ACSBG2_ENST00000588485.1_Missense_Mutation_p.S307F|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.S494F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.S494F|ACSBG2_ENST00000586696.1_Missense_Mutation_p.S494F			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	494					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTACACTCTGGGGATCTG	0.552000													9	151					0	0	0.361761	0	0
ZNF536	9745	broad.mit.edu	37	19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:30934639A>G	ENST00000355537.3	+	2	317	c.170A>G	c.(169-171)gAg>gGg	p.E57G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677000													21	88					0	0	0.608945	0	0
ZNF264	9422	broad.mit.edu	37	19	57723539	57723539	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57723539C>T	ENST00000263095.6	+	4	1488	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	ZNF264_ENST00000536056.1_Silent_p.L358L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L358L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGTCATATCTCATGTGGCACC	0.517000													25	127					0	0	0.681144	0	0
TTLL4	9654	broad.mit.edu	37	2	219602407	219602407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:219602407C>T	ENST00000392102.1	+	3	348	c.8C>T	c.(7-9)tCa>tTa	p.S3L	TTLL4_ENST00000442769.1_Missense_Mutation_p.S3L|TTLL4_ENST00000258398.4_Missense_Mutation_p.S3L|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	3					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTCATGGCCTCAGCAGGAACA	0.572000													8	71					0	0	0.307466	0	0
IGHG4	3503	broad.mit.edu	37	14	106091432	106091432	+	RNA	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:106091432C>G	ENST00000390543.2	-	0	461																											ACCAGTTGAACTGGACCTCGG	0.602000													31	170					0	0	0.729181	0	0
DBF4B	80174	broad.mit.edu	37	17	42828155	42828155	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:42828155C>G	ENST00000315005.3	+	14	1520	c.1382C>G	c.(1381-1383)gCt>gGt	p.A461G	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	461					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTTCCTTGGCTCTGCTGCCT	0.632000													26	93					0	0	0.681144	0	0
AADACL2	344752	broad.mit.edu	37	3	151451836	151451836	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:151451836G>A	ENST00000356517.3	+	1	122	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	5						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGGCTAAAAGCTCTCTGTTT	0.383000													4	45					0	0	0.150653	0	0
BAP1	8314	broad.mit.edu	37	3	52437288	52437288	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:52437288T>G	ENST00000460680.1	-	14	2227	c.1756A>C	c.(1756-1758)Atc>Ctc	p.I586L	BAP1_ENST00000296288.5_Missense_Mutation_p.I568L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	586					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATTGGTCTGATGGAGGGCGAG	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							17	36					0	0	0.520397	0	0
SSFA2	6744	broad.mit.edu	37	2	182765561	182765561	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:182765561A>G	ENST00000431877.2	+	7	821	c.642A>G	c.(640-642)atA>atG	p.I214M	SSFA2_ENST00000428267.2_Missense_Mutation_p.I61M|SSFA2_ENST00000320370.7_Missense_Mutation_p.I214M|SSFA2_ENST00000409001.1_Missense_Mutation_p.I214M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	214						cytoplasm|plasma membrane	actin binding	p.I214M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCAAAGGGATAGATATTAAAG	0.308000													20	71					0	0	0.624587	0	0
OR10T2	128360	broad.mit.edu	37	1	158368589	158368589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:158368589A>G	ENST00000334438.1	-	1	667	c.668T>C	c.(667-669)gTt>gCt	p.V223A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V223A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GATGGTGTTAACTATGAAGCC	0.473000													7	47					0	0	0.307466	0	0
COL14A1	7373	broad.mit.edu	37	8	121210093	121210093	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:121210093G>C	ENST00000297848.3	+	7	906	c.636G>C	c.(634-636)ttG>ttC	p.L212F	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Missense_Mutation_p.L212F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L212F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	212	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGCACTTGAATGCATTTA	0.388000													15	119					0	0	0.557998	0	0
HMCN1	83872	broad.mit.edu	37	1	186039757	186039757	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:186039757C>T	ENST00000271588.4	+	52	8236	c.8007C>T	c.(8005-8007)atC>atT	p.I2669I	HMCN1_ENST00000367492.2_Silent_p.I2669I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2669	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.I2669I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATAATCAATAAAGGGG	0.373000													25	110					0	0	0.681144	0	0
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	229					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622000													10	129					0	0	0.361761	0	0
MRPL9	65005	broad.mit.edu	37	1	151734860	151734860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:151734860C>A	ENST00000368830.3	-	3	511	c.427G>T	c.(427-429)Gag>Tag	p.E143*	MRPL9_ENST00000368829.3_Nonsense_Mutation_p.E143*|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	143					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCAATTTCTCCTCTTCAAAC	0.438000													40	158					3.43241e-23	4.19261e-23	0.847076	1	0
FIGNL1	63979	broad.mit.edu	37	7	50513222	50513222	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:50513222G>A	ENST00000419119.1	-	2	3317	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	FIGNL1_ENST00000395556.2_Silent_p.L588L|FIGNL1_ENST00000356889.4_Silent_p.L588L|FIGNL1_ENST00000433017.1_Silent_p.L588L			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	588					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTTCTTCACTGAGGCAACACT	0.453000													15	118					0	0	0.500413	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008565	88008565	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:88008565C>A	ENST00000276127.4	+	3	409	c.150C>A	c.(148-150)aaC>aaA	p.N50K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.N50K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	50						intracellular	zinc ion binding	p.N50K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCCAATAAACAGGGAGCCAG	0.443000													7	7					0.00198382	0.00205145	0.248553	1	0
SLC9A3R1	9368	broad.mit.edu	37	17	72764743	72764743	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:72764743G>A	ENST00000262613.5	+	6	1220	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.R186Q	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	342					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						AGCAGCAAACGGGCCCCGCAG	0.612000													38	119					0	0	0.859065	0	0
FRMD3	257019	broad.mit.edu	37	9	86153021	86153021	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:86153021C>A	ENST00000304195.3	-	1	332	c.126G>T	c.(124-126)tcG>tcT	p.S42S	FRMD3_ENST00000376438.1_Silent_p.S42S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	42	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGAGATCTCCGAGTCGTCCA	0.652000													6	30					0.00116845	0.00122217	0.217242	1	0
SMARCA2	6595	broad.mit.edu	37	9	2086844	2086844	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:2086844A>T	ENST00000382203.1	+	18	2751	c.2542A>T	c.(2542-2544)Atg>Ttg	p.M848L	SMARCA2_ENST00000349721.2_Missense_Mutation_p.M848L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M848L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M848L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	848	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.M848L(1)|p.M844L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTGGAAATACATGATAGTGGA	0.478000													26	104					0	0	0.693898	0	0
XPOT	11260	broad.mit.edu	37	12	64818445	64818445	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:64818445C>G	ENST00000332707.5	+	12	1778	c.1249C>G	c.(1249-1251)Caa>Gaa	p.Q417E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	417					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGGCTTGCTCAAGTTTCACC	0.373000													20	116					0	0	0.608945	0	0
TDRD3	81550	broad.mit.edu	37	13	61034585	61034585	+	Silent	SNP	T	T	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:61034585T>G	ENST00000535286.1	+	4	336	c.264T>G	c.(262-264)tcT>tcG	p.S88S	TDRD3_ENST00000196169.3_5'UTR|TDRD3_ENST00000377894.2_5'UTR|TDRD3_ENST00000463109.1_3'UTR|TDRD3_ENST00000377881.2_5'UTR	NM_001146070.1	NP_001139542.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	0					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATGAAGAATCTCAGGCTGCAC	0.378000													9	74					0	0	0.387290	0	0
CXXC4	80319	broad.mit.edu	37	4	105412204	105412204	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:105412204G>C	ENST00000394767.2	-	2	1206	c.756C>G	c.(754-756)atC>atG	p.I252M	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.I83M	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	83					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.I83M(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CTGTCATGACGATGACCCCTG	0.577000													27	110					0	0	0.681144	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564125	176564125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:176564125C>T	ENST00000367662.3	+	3	2549	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P462L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	462	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P462L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCTTTGAGCCTGTGAACACA	0.542000													24	111					0	0	0.654019	0	0
PPCS	79717	broad.mit.edu	37	1	42925463	42925463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:42925463delT	ENST00000372561.3	+	3	809	c.802delT	c.(802-804)ttfs	p.F268fs	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Frame_Shift_Del_p.F95fs|PPCS_ENST00000372562.1_Frame_Shift_Del_p.F95fs	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	268					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCTTTGTGTTTATTGTAAC	0.408													26	203	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226047034	226047035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:226047034_226047035insA	ENST00000366835.3	-	15	1508_1509	c.1238_1239insT	c.(1237-1239)acafs	p.T413fs		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	413						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAGGCCCTGGATAGAGAGGTT	0.574													10	72	---	---	---	---					
FBXO11	80204	broad.mit.edu	37	2	48035326	48035327	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:48035326_48035327insGG	ENST00000403359.3	-	23	2786_2787	c.2714_2715insCC	c.(2713-2715)cacfs	p.H905fs	FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.H821fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.H821fs|FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.H329fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	905					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCATGTGTAGGCTCACCAGC	0.401			"""Mis, F, D"""		DLBCL								36	142	---	---	---	---					
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275	byFrequency	TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)ggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618													14	12	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcafs	p.LT354fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	354					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.653													8	335	---	---	---	---					
RP11-83M16.6	0	broad.mit.edu	37	5	67107582	67107585	+	RNA	DEL	TCTT	TCTT	-	rs71957981		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:67107582_67107585delTCTT	ENST00000506819.1	-	0	152				RP11-434D9.2_ENST00000514791.1_lincRNA														p.0?(1)									cttttctttctctttctttctttc	0.402													2	4	---	---	---	---					
HAVCR2	84868	broad.mit.edu	37	5	156522408	156522434	+	In_Frame_Del	DEL	AGAGTCCCGTAAGTCATTGGCCAATCT	AGAGTCCCGTAAGTCATTGGCCAATCT	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT	ENST00000307851.4	-	5	1289_1315	c.559_585delAGATTGGCCAATGACTTACGGGACTCT	c.(559-585)del	p.RLANDLRDS187del	HAVCR2_ENST00000522593.1_In_Frame_Del_p.RLANDLRDS159del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	187						integral to membrane		p.S195C(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTTGCTCCAGAGTCCCGTAAGTCATTGGCCAATCTAGAGTCCCGT	0.445													16	117	---	---	---	---					
TBRG4	9238	broad.mit.edu	37	7	45148633	45148634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:45148633_45148634insA	ENST00000258770.3	-	2	324_325	c.203_204insT	c.(202-204)agafs	p.R68fs	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000494076.1_Frame_Shift_Ins_p.R68fs|TBRG4_ENST00000395655.4_Frame_Shift_Ins_p.R68fs|TBRG4_ENST00000361278.3_Frame_Shift_Ins_p.R68fs	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	68					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCTGCTTCTCTATGTAGGGAGT	0.554													34	108	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127595687	127595688	+	RNA	INS	-	-	AC			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:127595687_127595688insAC	ENST00000519880.1	+	0	57				RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA																							AGAACAACAATacacacacaca	0.436													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102296030	102296032	+	RNA	DEL	CTC	CTC	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:102296030_102296032delCTC	ENST00000561463.1	+	0	4076_4078																											AGTTCATCTTCTCGGAGCTGCTG	0.596													2	4	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67271255	67271256	+	Frame_Shift_Ins	INS	-	-	GGAGTCC			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67271255_67271256insGGAGTCC	ENST00000258201.4	-	9	1126_1127	c.879_880insGGACTCC	c.(877-882)tctctafs	p.L294fs	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	294	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACATCGTAGAAGGAGTCCTGGT	0.663													8	94	---	---	---	---					
ARHGEF18	23370	broad.mit.edu	37	19	7535174	7535176	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:7535174_7535176delTCT	ENST00000359920.6	+	19	3765_3767	c.3512_3514delTCT	c.(3511-3516)atc>a	p.IF1171del	ARHGEF18_ENST00000319670.9_In_Frame_Del_p.IF1013del	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1171					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GAAGACGTCATCTTCTTCTAAAA	0.675													18	60	---	---	---	---