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
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	uc004apc.3	+	19	2173	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				63	86					0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	uc001ogr.3	+	2	460	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	136					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582000													8	85					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	uc001qnm.2	-	7	962	c.890C>G	c.(889-891)tCt>tGt	p.S297C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	302						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403000													4	3					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	uc002tyz.4	-	6	1801	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	460					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428000													23	26					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	uc010wmr.2	+	5	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	246					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602000													26	38					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	uc002ppq.2	-	1	424	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572000													3	62					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	uc010ufy.2	-	7	1071	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	282						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433000													63	48					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100973003	100973003	+	Silent	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	uc011lvb.2	-	7	1788	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_uc004ayp.3_Silent_p.V76V|TBC1D2_uc004ayq.3_Silent_p.V536V|TBC1D2_uc004ayr.3_Silent_p.V318V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	536						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637000													4	3					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	uc001xzs.1	-	14	1479	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	447					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353000													3	70					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	uc003ygq.4	+	10	1498	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	439					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493000													5	64					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			59	81					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	uc003bhh.3	-	0	6204	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2068					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463000													12	16					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	uc003xsz.2	-	1	814	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_uc003xta.3_Missense_Mutation_p.E245K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000													23	86					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr9:90296352C>T	uc004apc.3	+	19	2173	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				63	86					0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr11:65780827C>T	uc001ogr.3	+	2	460	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	136					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582000													8	85					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr2:157182823C>T	uc002tyz.4	-	6	1801	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	460					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428000													23	26					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr17:48596401A>T	uc010wmr.2	+	5	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	246					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602000													26	38					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr19:50315885T>C	uc002ppq.2	-	1	424	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572000													3	62					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr15:51837864C>A	uc010ufy.2	-	7	1071	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	282						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433000													63	48					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr14:92126274G>C	uc001xzs.1	-	14	1479	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	447					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353000													3	70					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:95683762C>T	uc003ygq.4	+	10	1498	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	439					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493000													5	64					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			59	81					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr22:46653016A>C	uc003bhh.3	-	0	6204	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2068					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463000													12	16					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:57353902C>T	uc003xsz.2	-	1	814	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_uc003xta.3_Missense_Mutation_p.E245K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000													23	86					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	uc003llm.3	-	19	3089	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1004	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.A1004V(2)|p.A1004S(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577													38	30	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr5:141041612delG	uc003llm.3	-	19	3089	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1004	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.A1004V(2)|p.A1004S(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577													38	30	---	---	---	---