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
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													5	210					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	ENST00000356388.4	-	6	992	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	268					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCCACGTAGGGGTAGTT	0.677000													55	96					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	ENST00000304636.3	+	48	3813	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1215					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAAGCTGGCGGTTTTGCCCC	0.507000													4	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	ENST00000589042.1	-	282	54756	c.54532C>T	c.(54532-54534)Cgc>Tgc	p.R18178C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16537C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16537	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTGCGTGCCAAAACT	0.453000													47	80					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	ENST00000265825.5	+	6	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_ENST00000420086.2_Splice_Site_p.G297_splice	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	433						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572000													18	70					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	ENST00000389524.4	+	32	4315	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_ENST00000409816.2_Missense_Mutation_p.R1421H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1421	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCCCCCGCCTGCCCAAG	0.617000													6	13					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54742930	54742930	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:54742930T>C	ENST00000396365.2	-	8	1384	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRA6_ENST00000440558.2_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCATGCGGATGAGATTCTCC	0.582000													32	84					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	ENST00000296582.3	+	10	1785	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	404						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408000													29	47					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023641	6023641	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428000													17	25					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116412045	116412045	+	Splice_Site	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	ENST00000397752.3	+	14	3228		c.e14+2		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				29	847					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815579	139815579	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	ENST00000359662.3	+	9	1251	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	TRAF2_ENST00000247668.2_Silent_p.Y350Y|TRAF2_ENST00000536468.1_Silent_p.Y350Y			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	350	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602000													38	44					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	ENST00000354546.5	-	23	1914	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	563						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582000													64	105					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259000													8	23					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	ENST00000446444.1	-	5	1179	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428000													13	136					6.72482e-11	7.18074e-11	1	1	0
CHD8	57680	broad.mit.edu	37	14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	ENST00000399982.2	-	5	1797	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000557364.1_Missense_Mutation_p.R578H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378000													26	25					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74085469	74085469	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	ENST00000298198.4	-	2	581	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	90					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTGTGTTGACTGTATTACTG	0.463000													11	19					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	ENST00000356083.3	+	23	3277	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627000													15	22					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	ENST00000317658.3	+	1	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	222					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393000													10	26					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	ENST00000331113.4	+	3	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	438					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGCCAAAAGCGGAAGCGCAA	0.373000													14	52					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	ENST00000266771.5	-	7	1592	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	518					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542000													51	74					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:195505772C>G	ENST00000463781.3	-	2	13138	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V4227L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	984					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582000													3	22					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	ENST00000335211.4	+	17	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCAGCGCCCACATCCT	0.662000													71	83					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	ENST00000310754.4	-	1	527	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	114					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.A114E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373000													12	31					0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	ENST00000422447.3	+	5	838	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F|LDHA_ENST00000396222.2_Missense_Mutation_p.V189F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	189					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TCATGGGTGGGTCCTTGGGGA	0.408000													4	76					0.000602214	0.000621959	1	1	0
PARM1	25849	broad.mit.edu	37	4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	ENST00000307428.7	+	2	637	c.425C>A	c.(424-426)gCt>gAt	p.A142D	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	142					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572000													22	245					4.35082e-09	4.56836e-09	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129070795	129070795	+	Silent	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	ENST00000274487.4	+	22	3610	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1155					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAACATCACCCAGACTGGGTA	0.338000													21	44					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	ENST00000399575.2	+	3	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	209	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463000													39	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	ENST00000397910.4	-	3	11116	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTTCCAATGACAGTTAT	0.448000													30	38					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	ENST00000348070.1	-	8	955	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	320	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567000													90	139					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	ENST00000245503.5	-	27	3788	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1135					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTGGCCCGGGAGGCCCG	0.592000													36	69					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802435	103802435	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	ENST00000216554.3	+	4	811	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000560200.1_Intron|EIF5_ENST00000392715.2_Silent_p.A45A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	45					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408000													18	6					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	ENST00000338282.6	-	8	924	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MYH11_ENST00000452625.2_Missense_Mutation_p.R280H|MYH11_ENST00000300036.5_Missense_Mutation_p.R273H|MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.1_Missense_Mutation_p.R273H	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488000			T	CBFB	AML								68	111					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410640	195410640	+	RNA	SNP	T	T	C	rs6583273	by1000genomes	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837																											TTGATGAGTATGATCACTCCA	0.468000													5	24					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	ENST00000397752.3	+	6	1933	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_ENST00000318493.6_Missense_Mutation_p.G578A|MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	578	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				434	995					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	ENST00000432997.1	+	3	564	c.212G>A	c.(211-213)cGc>cAc	p.R71H	KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	71					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACTCCTGCGCTCATACATG	0.532000													74	120					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21608324	21608324	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	ENST00000524240.1	-	4	1220	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_ENST00000518077.1_Silent_p.S57S|GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000400782.4_Silent_p.S85S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	190						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607000													36	52					0	0	1	0	0
NAA20	51126	broad.mit.edu	37	20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	ENST00000334982.4	+	1	306	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_ENST00000310450.4_Missense_Mutation_p.C9S|NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	9	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716000													11	27					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	ENST00000279783.2	+	1	114	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363000										HNSCC(65;0.19)			16	33					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	ENST00000541428.1	-	8	734	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y|ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000379454.4_Missense_Mutation_p.D221Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	221	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGATTACAGTCTTGTGAAACT	0.318000													5	14					0.014758	0.014996	1	1	0
RYR3	6263	broad.mit.edu	37	15	34150114	34150114	+	Splice_Site	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_ENST00000415757.3_Splice_Site_p.T4709_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582000													26	32					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	ENST00000245960.5	+	10	1751	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	352					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657000													7	9					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	ENST00000301807.6	-	21	6078	c.4181A>G	c.(4180-4182)cAg>cGg	p.Q1394R	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R|TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1944R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1944					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572000													12	22					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	ENST00000233099.5	-	11	1710	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	539							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGCAGTTCGTAAAAGATCT	0.348000													30	51					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	ENST00000367057.3	+	2	533	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_ENST00000367059.3_Missense_Mutation_p.T115I|CR2_ENST00000458541.2_Missense_Mutation_p.T115I|CR2_ENST00000367058.3_Missense_Mutation_p.T115I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	115	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTGTGACATTTGCCTGT	0.423000													25	52					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	119					0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	ENST00000337386.5	+	6	1446	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_ENST00000484774.1_Intron|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A|NAB1_ENST00000409641.1_Missense_Mutation_p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	329	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGAATTATCCCCAAAGAGAAT	0.318000													10	22					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-	rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	ENST00000366645.1	-	1	747_749	c.629_631delTGG	c.(628-633)gct>g	p.VA210del	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_In_Frame_Del_p.VA214del			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	214	PH.				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)				AGCCAGGTAGCCACCAACAAGCA	0.547													43	73	---	---	---	---					
SLIT2	9353	broad.mit.edu	37	4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	ENST00000504154.1	+	14	1546_1549	c.1294_1297delTTTA	c.(1294-1299)ttfs	p.FI432fs	SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	432	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGAACCCCTTTATTTGTGACTG	0.485													59	111	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	ENST00000381897.1	-	7	799_801	c.666_668delTGA	c.(664-669)gaa>ga	p.DE222del	RFC1_ENST00000349703.2_In_Frame_Del_p.DE222del|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	222					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAAACTCTTCATCTTCATGCA	0.379													16	36	---	---	---	---					
MBL1P	0	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													2	4	---	---	---	---					
KRTAP9-1	0	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													7	35	---	---	---	---