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
FRY	10129	broad.mit.edu	37	13	32841345	32841345	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:32841345C>T	ENST00000380250.3	+	55	8481	c.7985C>T	c.(7984-7986)tCg>tTg	p.S2662L	FRY_ENST00000542859.1_Missense_Mutation_p.S32L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCCCTCCCTCGCCCTTCTTC	0.537000													47	230					0	0	0.864702	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656013	40656013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:40656013C>T	ENST00000406785.1	-	2	1597	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	SLC8A1_ENST00000406391.2_Missense_Mutation_p.D470N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D470N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D470N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D470N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D470N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	470	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTGGGTATCACCAGGCTTA	0.408000													12	106					0	0	0.387290	0	0
IGFL2	147920	broad.mit.edu	37	19	46664118	46664118	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:46664118C>T	ENST00000434646.2	+	4	645	c.354C>T	c.(352-354)ccC>ccT	p.P118P	IGFL2_ENST00000377693.4_Silent_p.P107P|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	107						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		ACTCATCTCCCATCTCCAGTA	0.532000													5	129					0	0	0.217242	0	0
AGT	183	broad.mit.edu	37	1	230845931	230845931	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:230845931C>T	ENST00000366667.4	-	2	880	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	222					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCTGCACAAACGGCTGCTTCA	0.617000													5	91					0	0	0.217242	0	0
RERG	85004	broad.mit.edu	37	12	15262344	15262344	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:15262344G>A	ENST00000256953.2	-	5	636	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RERG_ENST00000546331.1_Silent_p.N81N|RERG_ENST00000538313.1_Silent_p.N100N|RERG_ENST00000536465.1_Silent_p.N100N	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	100					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATCTAGGATGTTCTTAAGTG	0.498000													91	414					0	0	0.870114	0	0
BAP1	8314	broad.mit.edu	37	3	52441440	52441440	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:52441440C>T	ENST00000460680.1	-	6	883	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	BAP1_ENST00000296288.5_Missense_Mutation_p.A138T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	138					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	p.?(2)		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)		TGGGCCTTGGCCAACTCCGGG	0.517000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							5	162					0	0	0.184627	0	0
GREM2	64388	broad.mit.edu	37	1	240656540	240656540	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:240656540C>T	ENST00000318160.4	-	2	502	c.236G>A	c.(235-237)cGg>cAg	p.R79Q		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	79	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.R79P(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACCGTCTGCCGCAGCGGCTG	0.642000													4	29					0	0	0.307466	0	0
RPH3AL	9501	broad.mit.edu	37	17	169309	169309	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:169309G>A	ENST00000323434.8	-	5	850	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RPH3AL_ENST00000536489.2_Missense_Mutation_p.R85W|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R85W	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	85	RabBD.			R -> Q (in Ref. 4; AAH05153).	exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	p.R85W(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ATCACATTCCGCCTCATGGTC	0.632000													5	40					0	0	0.184627	0	0
PIPSL	266971	broad.mit.edu	37	10	95720038	95720038	+	RNA	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:95720038G>A	ENST00000480546.1	-	0	1259					NR_002319.2																						CAGTGTCTCCGTCATGTATCA	0.458000													28	164					0	0	0.729181	0	0
GPR107	57720	broad.mit.edu	37	9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:132854651G>A	ENST00000372406.1	+	9	1361	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q|GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	285						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423000													62	170					0	0	0.870114	0	0
RFNG	5986	broad.mit.edu	37	17	80006664	80006664	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:80006664G>A	ENST00000310496.4	-	8	941	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	RFNG_ENST00000429557.3_Missense_Mutation_p.L186F|RFNG_ENST00000584838.1_5'UTR	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	312					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGTACAGAAGACAATGGATA	0.652000													7	81					0	0	0.278610	0	0
PPAT	5471	broad.mit.edu	37	4	57267496	57267496	+	Splice_Site	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:57267496C>T	ENST00000264220.2	-	7	1023	c.886_splice	c.e7+1	p.D296_splice		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	296					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATCTACTTACCTTCGAACATA	0.353000													19	271					0	0	0.592651	0	0
USH2A	7399	broad.mit.edu	37	1	216390860	216390860	+	Missense_Mutation	SNP	G	G	A	rs150729680	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:216390860G>A	ENST00000366943.2	-	15	3412	c.3026C>T	c.(3025-3027)gCc>gTc	p.A1009V	USH2A_ENST00000307340.3_Missense_Mutation_p.A1009V|USH2A_ENST00000366942.3_Missense_Mutation_p.A1009V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1009	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTCAAGGCTCCTGAGAG	0.393000										HNSCC(13;0.011)			9	52					0	0	0.307466	0	0
WDR44	54521	broad.mit.edu	37	X	117582909	117582909	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:117582909G>A	ENST00000254029.3	+	20	3096	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T	WDR44_ENST00000371825.3_Missense_Mutation_p.A893T|WDR44_ENST00000371822.5_Missense_Mutation_p.A812T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	901						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCACTGGAGCAATCAAAGT	0.254000													16	91					0	0	0.557998	0	0
ZIC4	84107	broad.mit.edu	37	3	147114229	147114229	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:147114229T>G	ENST00000383075.3	-	3	610	c.98A>C	c.(97-99)cAg>cCg	p.Q33P	ZIC4_ENST00000484399.1_Missense_Mutation_p.Q33P|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q71P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.Q83P|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q33P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	33						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGGTGAGCTGGGGGCCATG	0.692000													9	37					0	0	0.335167	0	0
LRCH1	23143	broad.mit.edu	37	13	47260079	47260079	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:47260079G>C	ENST00000311191.6	+	5	954	c.725G>C	c.(724-726)tGc>tCc	p.C242S	LRCH1_ENST00000389797.3_Missense_Mutation_p.C242S|LRCH1_ENST00000389798.3_Missense_Mutation_p.C242S	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	242										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GACTTTTCCTGCAACAAAGTG	0.343000													7	55					0	0	0.307466	0	0
ST18	9705	broad.mit.edu	37	8	53055550	53055550	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:53055550G>A	ENST00000276480.7	-	17	2791	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	703						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTATAGAGGCCTCTCCAGG	0.418000													25	193					0	0	0.681144	0	0
EIF3B	8662	broad.mit.edu	37	7	2409152	2409152	+	Silent	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:2409152G>T	ENST00000360876.4	+	10	1505	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	EIF3B_ENST00000397011.2_Silent_p.V483V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	483					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTTCTGGGTGCCTGAAGACA	0.473000													48	338					1.72184e-34	2.0893e-34	0.870114	1	0
ZNF208	7757	broad.mit.edu	37	19	22155688	22155688	+	Silent	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:22155688A>T	ENST00000397126.4	-	4	2296	c.2148T>A	c.(2146-2148)acT>acA	p.T716T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTCTCTCCAGTATGAATTC	0.373000													12	111					0	0	0.539581	0	0
STXBP3	6814	broad.mit.edu	37	1	109342874	109342874	+	Silent	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:109342874A>G	ENST00000370008.3	+	17	1532	c.1482A>G	c.(1480-1482)gaA>gaG	p.E494E		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	494					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTCAAAAGAATGGCCATATT	0.343000													15	96					0	0	0.479597	0	0
DIP2B	57609	broad.mit.edu	37	12	51080428	51080428	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:51080428A>T	ENST00000301180.5	+	12	1548	c.1514A>T	c.(1513-1515)cAc>cTc	p.H505L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	505						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGCAGCCACACATCTCACCT	0.458000													4	24					0	0	0.217242	0	0
MUC17	140453	broad.mit.edu	37	7	100686329	100686329	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100686329A>G	ENST00000306151.4	+	3	11696	c.11632A>G	c.(11632-11634)Act>Gct	p.T3878A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3878						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)					TCCATTAACAACTCTCCTTGT	0.468000													38	185					0	0	0.847076	0	0
CNR2	1269	broad.mit.edu	37	1	24202069	24202069	+	Silent	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:24202069G>C	ENST00000536471.1	-	3	297	c.39C>G	c.(37-39)tcC>tcG	p.S13S	CNR2_ENST00000374472.4_Silent_p.S13S			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	13					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	AGCCATCCTTGGAGCCATTGG	0.512000													24	188					0	0	0.740014	0	0
ZC3H15	55854	broad.mit.edu	37	2	187364950	187364950	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:187364950C>G	ENST00000337859.6	+	3	446	c.219C>G	c.(217-219)gaC>gaG	p.D73E	ZC3H15_ENST00000468120.1_3'UTR|AC018867.1_ENST00000396985.1_Intron|ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	73						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AGAAGGATGACAAGAAGAAAG	0.308000													6	51					0	0	0.217242	0	0
ATF4	468	broad.mit.edu	37	22	39918604	39918604	+	Silent	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:39918604C>A	ENST00000337304.2	+	2	1935	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P	ATF4_ENST00000396680.1_Silent_p.P351P|ATF4_ENST00000404241.2_Silent_p.P351P	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	351					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAAGGGTCCCCTAGTTGAGGA	0.468000													4	29					0.150653	0.153744	0.150653	1	0
ZNF334	55713	broad.mit.edu	37	20	45131097	45131097	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:45131097T>A	ENST00000457685.2	-	6	2090	c.767A>T	c.(766-768)gAa>gTa	p.E256V	ZNF334_ENST00000347606.4_Missense_Mutation_p.E294V|ZNF334_ENST00000593880.1_Missense_Mutation_p.E317V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCACTGCATTCATAGGGTCT	0.423000													52	241					0	0	0.870114	0	0
PLS1	5357	broad.mit.edu	37	3	142388320	142388320	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:142388320C>T	ENST00000337777.3	+	3	372	c.159C>T	c.(157-159)cgC>cgT	p.R53R	PLS1_ENST00000457734.2_Silent_p.R53R|PLS1_ENST00000497002.1_Silent_p.R53R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	53	EF-hand 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACAAGGTGCGCGAGATTGTGG	0.408000													26	184					0	0	0.693898	0	0
OPA3	80207	broad.mit.edu	37	19	46032622	46032622	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:46032622G>A	ENST00000323060.3	-	2	312	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	79					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TCCGCGCCCAGCTCGGCGGCT	0.627000													10	82					0	0	0.654019	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851650	133851650	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:133851650A>T	ENST00000395386.2	+	18	2509	c.2210A>T	c.(2209-2211)aAa>aTa	p.K737I	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.K124I|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K712I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	737							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAGTGCAAAATATCGTTAT	0.373000													7	154					0	0	0.335167	0	0
LRP1B	53353	broad.mit.edu	37	2	141027862	141027862	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:141027862T>C	ENST00000389484.3	-	86	14167	c.13196A>G	c.(13195-13197)tAc>tGc	p.Y4399C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4399	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y4399F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCACCATTGTAACAGTAGCC	0.403000										TSP Lung(27;0.18)			12	132					0	0	0.411799	0	0
OASL	8638	broad.mit.edu	37	12	121461833	121461833	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:121461833T>C	ENST00000257570.5	-	5	1277	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	OASL_ENST00000339275.5_Silent_p.L255L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	336					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTGTCATAGCAACAGTC	0.557000													5	102					0	0	0.184627	0	0
TLK2	11011	broad.mit.edu	37	17	60678092	60678092	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:60678092A>G	ENST00000582809.1	+	19	1887	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	TLK2_ENST00000542523.1_Missense_Mutation_p.E512G|TLK2_ENST00000346027.5_Missense_Mutation_p.E544G|TLK2_ENST00000326270.9_Missense_Mutation_p.E566G|TLK2_ENST00000343388.7_Missense_Mutation_p.E512G			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	566					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGGAGAAAGAGGCCCGGTCC	0.368000													19	97					0	0	0.575678	0	0
REM2	161253	broad.mit.edu	37	14	23355326	23355326	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:23355326A>G	ENST00000267396.4	+	4	736	c.613A>G	c.(613-615)Aaa>Gaa	p.K205E	REM2_ENST00000536884.1_Missense_Mutation_p.Q180R	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	205					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GAGTTTCTCCAAAGTTCCAGA	0.627000													13	73					0	0	0.457914	0	0
ITGA9	3680	broad.mit.edu	37	3	37555268	37555268	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:37555268C>T	ENST00000264741.5	+	9	1168	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ITGA9_ENST00000422441.1_Silent_p.F304F	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	304					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTCTTACTTCGGCTCCTCCT	0.552000													15	82					0	0	0.500413	0	0
MED13	9969	broad.mit.edu	37	17	60050211	60050211	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:60050211G>A	ENST00000397786.2	-	17	3920	c.3844C>T	c.(3844-3846)Ctc>Ttc	p.L1282F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1282					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAGAGAGGAGCATTCGAAGT	0.373000													59	250					0	0	0.870114	0	0
OR8J3	81168	broad.mit.edu	37	11	55904306	55904306	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:55904306C>A	ENST00000301529.1	-	1	888	c.889G>T	c.(889-891)Gta>Tta	p.V297L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCAACATTTACATCATTATTC	0.338000													20	141					3.99206e-14	4.64573e-14	0.557998	1	0
CRISP2	7180	broad.mit.edu	37	6	49667570	49667570	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:49667570C>G	ENST00000339139.4	-	6	454	c.218G>C	c.(217-219)aGg>aCg	p.R73T		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	73						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTTTGCCCACCTTTGGGCATT	0.333000													12	78					0	0	0.479597	0	0
DHX34	9704	broad.mit.edu	37	19	47865870	47865870	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:47865870G>A	ENST00000328771.4	+	6	1862	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	505	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCGCCTCTATGCCGAATCGGA	0.657000													9	51					0	0	0.387290	0	0
PNN	5411	broad.mit.edu	37	14	39650863	39650863	+	Silent	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:39650863G>T	ENST00000216832.4	+	9	2017	c.1950G>T	c.(1948-1950)gtG>gtT	p.V650V	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	650	Arg-rich.|Necessary for interaction with PPIG.|Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAGGAGCGTGGATCGGAAGA	0.443000													5	111					0.184627	0.187453	0.184627	1	0
NPAP1	23742	broad.mit.edu	37	15	24923846	24923846	+	Silent	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:24923846T>C	ENST00000329468.2	+	1	3306	c.2832T>C	c.(2830-2832)ggT>ggC	p.G944G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTCCACCAGGTTTTGCAGAGT	0.483000													24	108					0	0	0.624587	0	0
KANSL1	284058	broad.mit.edu	37	17	44109631	44109631	+	Nonsense_Mutation	SNP	G	G	A	rs147378906		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:44109631G>A	ENST00000262419.6	-	14	3342	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	KANSL1_ENST00000572904.1_Nonsense_Mutation_p.Q958*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.Q958*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.Q958*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.Q894*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.Q252*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	958						MLL1 complex	protein binding										CTGCCCAGCTGGGGGGTTGTC	0.577000													11	76					0	0	0.435327	0	0
MROH2B	133558	broad.mit.edu	37	5	41018010	41018010	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:41018010G>A	ENST00000399564.4	-	28	3276	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	MROH2B_ENST00000506092.2_Silent_p.T497T	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGGTGGGCAGGGTATCACAGG	0.483000													7	12					0	0	0.248553	0	0
MADD	8567	broad.mit.edu	37	11	47330541	47330541	+	Silent	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:47330541A>G	ENST00000311027.5	+	26	4044	c.3879A>G	c.(3877-3879)aaA>aaG	p.K1293K	MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000405573.2_Silent_p.K103K|MADD_ENST00000402799.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395336.3_Silent_p.K1293K	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1293					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAAGGGACAAAGGATCCATGT	0.458000													36	172					0	0	0.840704	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102487035	102487035	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:102487035A>T	ENST00000321521.9	+	9	1558	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.K329*|PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.K329*			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	329					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTTTTGTGAAAAATTCCAT	0.308000													31	131					0	0	0.769981	0	0
TOM1L2	146691	broad.mit.edu	37	17	17788024	17788024	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:17788024T>A	ENST00000581396.1	-	4	371	c.275A>T	c.(274-276)gAg>gTg	p.E92V	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E142V|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E142V|TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000395739.4_Intron	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	142	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTTCAGCTCCTCATATATGTG	0.517000													23	207					0	0	0.639603	0	0
APP	351	broad.mit.edu	37	21	27269978	27269978	+	Silent	SNP	C	C	T	rs141559720	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:27269978C>T	ENST00000358918.3	-	15	2116	c.1917G>A	c.(1915-1917)ggG>ggA	p.G639G	APP_ENST00000359726.3_Silent_p.G601G|APP_ENST00000357903.3_Silent_p.G638G|APP_ENST00000354192.3_Silent_p.G526G|APP_ENST00000348990.5_Silent_p.G582G|APP_ENST00000448388.2_Silent_p.G547G|APP_ENST00000346798.3_Silent_p.G657G|APP_ENST00000440126.3_Silent_p.G633G|APP_ENST00000439274.2_Silent_p.G601G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	657					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TATTTGTCAACCCAGAACCTG	0.358000													31	237					0	0	0.788014	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676687	44676687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:44676687C>T	ENST00000454036.1	+	16	2120	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R659C|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	682					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCTCTTACGCCTGGAGGA	0.597000													3	24					0	0	0.150653	0	0
RBL1	5933	broad.mit.edu	37	20	35684633	35684633	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr20:35684633T>A	ENST00000373664.3	-	10	1345	c.1279A>T	c.(1279-1281)Att>Ttt	p.I427F	RBL1_ENST00000344359.3_Missense_Mutation_p.I427F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	427	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATTTTCATAATGTTTTCCACA	0.348000													13	51					0	0	0.435327	0	0
CLASRP	11129	broad.mit.edu	37	19	45561107	45561107	+	Silent	SNP	G	G	A	rs143800882	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:45561107G>A	ENST00000544944.2	+	6	1256	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CLASRP_ENST00000391953.4_Silent_p.A126A|CLASRP_ENST00000221455.3_Silent_p.A188A			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	188					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGGAGTCAGCGGCCGAGGAGG	0.612000													12	95					0	0	0.435327	0	0
S100B	6285	broad.mit.edu	37	21	48022218	48022218	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:48022218G>C	ENST00000367071.4	-	2	307	c.111C>G	c.(109-111)atC>atG	p.I37M	S100B_ENST00000291700.4_Missense_Mutation_p.I37M|S100B_ENST00000397648.1_Missense_Mutation_p.I37M			P04271	S100B_HUMAN	S100 calcium binding protein B	37	EF-hand 1.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		GCTCATTGTTGATGAGCTCCT	0.443000													11	76					0	0	0.411799	0	0
MICAL1	64780	broad.mit.edu	37	6	109766112	109766112	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:109766112C>T	ENST00000368952.4	-	23	3315	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	MICAL1_ENST00000358577.3_Missense_Mutation_p.E904K|MICAL1_ENST00000358807.3_Missense_Mutation_p.E990K			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	990					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATCATGAGCTCGGCCTCCTCA	0.552000													5	242					0	0	0.217242	0	0
WNK2	65268	broad.mit.edu	37	9	95993222	95993222	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:95993222C>T	ENST00000297954.4	+	3	907	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R303W|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.R289W			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	303	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCTGGTGCCGGCAGATCCT	0.587000													25	77					0	0	0.667858	0	0
OR4D10	390197	broad.mit.edu	37	11	59244959	59244959	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:59244959G>A	ENST00000530162.1	+	1	114	c.57G>A	c.(55-57)caG>caA	p.Q19Q		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGACCCAGAATCGGGAAG	0.403000													5	162					0	0	0.184627	0	0
RDH12	145226	broad.mit.edu	37	14	68191267	68191267	+	Missense_Mutation	SNP	C	C	T	rs28940314		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:68191267C>T	ENST00000551171.1	+	4	470	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RDH12_ENST00000267502.3_Missense_Mutation_p.T49M|RDH12_ENST00000539142.1_Missense_Mutation_p.T49M	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	49			T -> M (in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect; dbSNP:rs28940314).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GGCGCCAACACGGGCATTGGC	0.557000													19	72					0	0	0.539581	0	0
STXBP1	6812	broad.mit.edu	37	9	130446647	130446647	+	Splice_Site	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:130446647G>A	ENST00000373302.3	+	19	1842	c.1702_splice	c.e19-1	p.G568_splice	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373299.1_Intron	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	568					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.G568V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCCCACAGGTTCTACTCAC	0.483000													14	51					0	0	0.435327	0	0
APH1A	51107	broad.mit.edu	37	1	150240393	150240393	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:150240393T>C	ENST00000360244.4	-	2	740	c.248A>G	c.(247-249)cAg>cGg	p.Q83R	APH1A_ENST00000369109.3_Missense_Mutation_p.Q83R|APH1A_ENST00000461320.1_Splice_Site|APH1A_ENST00000414276.2_Splice_Site	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	83					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACACCTCCTGTAGAAGGAC	0.552000													22	134					0	0	0.667858	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032541	41032541	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:41032541C>A	ENST00000380620.3	+	5	647	c.55C>A	c.(55-57)Ctt>Att	p.L19I	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.L19I|B3GALT5_ENST00000398714.2_Missense_Mutation_p.L19I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.L19I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	19					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCTGGGGGCTCTTTGTTTGTA	0.398000													29	219					2.08457e-15	2.46922e-15	0.750413	1	0
GRM7	2917	broad.mit.edu	37	3	7348199	7348199	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:7348199C>A	ENST00000486284.1	+	4	1167	c.893C>A	c.(892-894)gCa>gAa	p.A298E	GRM7_ENST00000402647.2_Missense_Mutation_p.A298E|GRM7_ENST00000403881.1_Missense_Mutation_p.A298E|GRM7_ENST00000389336.4_Missense_Mutation_p.A298E|GRM7_ENST00000357716.4_Missense_Mutation_p.A298E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	298					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCCTTGCAGCAGCCAAAAGA	0.438000													6	198					0.00198382	0.00208878	0.248553	1	0
DNAJB7	150353	broad.mit.edu	37	22	41257198	41257198	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423000													23	136					0	0	0.654019	0	0
GRIK1	2897	broad.mit.edu	37	21	30959875	30959875	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:30959875G>T	ENST00000399914.1	-	11	2080	c.1559C>A	c.(1558-1560)aCc>aAc	p.T520N	GRIK1_ENST00000389124.2_Missense_Mutation_p.T535N|GRIK1_ENST00000389125.3_Missense_Mutation_p.T520N|GRIK1_ENST00000327783.4_Missense_Mutation_p.T535N|GRIK1_ENST00000309434.7_Missense_Mutation_p.T537N|GRIK1_ENST00000535441.1_Missense_Mutation_p.T537N|GRIK1_ENST00000399907.1_Missense_Mutation_p.T535N|GRIK1_ENST00000399913.1_Missense_Mutation_p.T535N|GRIK1_ENST00000399909.1_Missense_Mutation_p.T520N			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	535					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCGCACGTAGGTGATGGTAAG	0.483000													3	48					0.004672	0.00484233	0.115264	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140798230	140798230	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140798230C>A	ENST00000398594.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACTGACCAGGACGAGG	0.532000													13	68					0.000151284	0.000160993	0.435327	1	0
OR1S1	219959	broad.mit.edu	37	11	57982965	57982965	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:57982965C>T	ENST00000309433.6	+	1	749	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAGTGGAAAGCCTTCTCCACT	0.468000													25	110					0	0	0.667858	0	0
PAPSS1	9061	broad.mit.edu	37	4	108608212	108608212	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:108608212C>T	ENST00000265174.4	-	4	805	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	178					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCTCCTGCCCGGGCTTTTTT	0.363000													11	238					0	0	0.361761	0	0
RBM6	10180	broad.mit.edu	37	3	50095359	50095359	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:50095359G>A	ENST00000443081.1	+	9	2415	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	RBM6_ENST00000266022.4_Missense_Mutation_p.R631K|RBM6_ENST00000442092.1_Missense_Mutation_p.R109K|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.R109K			P78332	RBM6_HUMAN	RNA binding motif protein 6	631	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTTCTCGAAGGGAAGGGCCA	0.512000													10	61					0	0	0.335167	0	0
PNMA5	114824	broad.mit.edu	37	X	152159412	152159412	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:152159412G>T	ENST00000439251.1	-	2	1169	c.731C>A	c.(730-732)tCt>tAt	p.S244Y	PNMA5_ENST00000452693.1_Missense_Mutation_p.S244Y|PNMA5_ENST00000361887.5_Missense_Mutation_p.S244Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.S244Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	244					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACTGAGAGGCTCTAAA	0.522000													30	184					3.00307e-07	3.32006e-07	0.729181	1	0
HNF1A	6927	broad.mit.edu	37	12	121431330	121431330	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:121431330C>T	ENST00000257555.6	+	3	760	c.534C>T	c.(532-534)acC>acT	p.T178T	HNF1A_ENST00000544413.1_Silent_p.T178T|HNF1A_ENST00000543427.1_Silent_p.T61T|HNF1A_ENST00000541395.1_Silent_p.T178T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.T178T|HNF1A_ENST00000402929.1_Silent_p.T178T			P20823	HNF1A_HUMAN	HNF1 homeobox A	178					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.H179fs*9(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGTTCACCCATGCAGGGC	0.587000									Hepatic Adenoma, Familial Clustering of				6	38					0	0	0.217242	0	0
ANO5	203859	broad.mit.edu	37	11	22249037	22249037	+	Nonsense_Mutation	SNP	G	G	T	rs140381407		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:22249037G>T	ENST00000324559.8	+	7	870	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	185						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCCCATCCTGAATATTTTAC	0.463000													18	164					8.00594e-06	8.70591e-06	0.557998	1	0
MARK1	4139	broad.mit.edu	37	1	220826574	220826574	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:220826574G>C	ENST00000402574.1	+	16	2465	c.1463G>C	c.(1462-1464)cGc>cCc	p.R488P	MARK1_ENST00000366918.4_Missense_Mutation_p.R601P|MARK1_ENST00000366917.4_Missense_Mutation_p.R623P	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	623					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGGGAGCGACGCAGCGTTGCT	0.532000													19	127					0	0	0.608945	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20211697	20211697	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:20211697T>A	ENST00000379565.3	-	7	708	c.501A>T	c.(499-501)gaA>gaT	p.E167D	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E139D|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E138D|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E139D	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	167	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGACATCTTCTTCTGTGAACA	0.294000													6	78					0	0	0.248553	0	0
MUC17	140453	broad.mit.edu	37	7	100683048	100683048	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100683048C>A	ENST00000306151.4	+	3	8415	c.8351C>A	c.(8350-8352)aCt>aAt	p.T2784N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2784	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)					CCTGTCACCACTTCTACTGAA	0.478000													9	340					2.17888e-05	2.34377e-05	0.335167	1	0
LRP1B	53353	broad.mit.edu	37	2	141571360	141571360	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:141571360T>A	ENST00000389484.3	-	32	6196	c.5225A>T	c.(5224-5226)tAt>tTt	p.Y1742F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1742					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTCCACATAGTCTATCGA	0.348000										TSP Lung(27;0.18)			13	109					0	0	0.457914	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76642983	76642983	+	Silent	SNP	T	T	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:76642983T>G	ENST00000261530.7	+	6	1068	c.1002T>G	c.(1000-1002)acT>acG	p.T334T	GPATCH2L_ENST00000312858.5_Silent_p.T334T	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		GCATAAACACTTTGGGGACTG	0.413000													27	152					0	0	0.706142	0	0
COL22A1	169044	broad.mit.edu	37	8	139601676	139601676	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:139601676G>A	ENST00000303045.6	-	65	5147	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1547P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			CAGGTTCCCCGGGTTGACCTG	0.577000										HNSCC(7;0.00092)			3	26					0	0	0.150653	0	0
MUC2	4583	broad.mit.edu	37	11	1087951	1087951	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:1087951C>T	ENST00000441003.2	+	25	3453	c.3426C>T	c.(3424-3426)ttC>ttT	p.F1142F	MUC2_ENST00000359061.5_Silent_p.F1142F	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1142						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGGAGCTTCGAGACCTGCA	0.612000													3	18					0	0	0.115264	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037648	220037648	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:220037648C>A	ENST00000409789.1	-	9	1320	c.893G>T	c.(892-894)tGc>tTc	p.C298F	CNPPD1_ENST00000360507.5_Missense_Mutation_p.C298F			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	298					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GCCTTCCAGGCAGCTGGAGAC	0.647000													17	127					2.39187e-15	2.81647e-15	0.575678	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050761	84050761	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:84050761C>T	ENST00000299709.3	-	7	936	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	313					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGAAGAGCACGATGGGGTAG	0.552000													10	56					0	0	0.387290	0	0
MON1B	22879	broad.mit.edu	37	16	77229463	77229463	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:77229463G>C	ENST00000248248.3	+	5	1677	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	MON1B_ENST00000545553.1_Missense_Mutation_p.E297Q|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.E334Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	443							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGAGAGGAGGAGCGGCA	0.632000													5	24					0	0	0.278610	0	0
DCAF13	25879	broad.mit.edu	37	8	104432504	104432504	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:104432504A>G	ENST00000297579.5	+	2	816	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	DCAF13_ENST00000519682.1_Missense_Mutation_p.Y24C|DCAF13_ENST00000521716.1_Missense_Mutation_p.Y24C|DCAF13_ENST00000521971.1_Missense_Mutation_p.Y24C|DCAF13_ENST00000521999.1_Intron	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	28					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAGAAACTATGATCCTGCT	0.358000													17	107					0	0	0.575678	0	0
SEMA3A	10371	broad.mit.edu	37	7	83606507	83606507	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:83606507G>A	ENST00000265362.3	-	15	1972	c.1658C>T	c.(1657-1659)aCa>aTa	p.T553I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T553I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	553					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGTCGTCTTGTGCGTCTGAA	0.343000													18	120					0	0	0.575678	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615679	140615679	+	RNA	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140615679C>A	ENST00000526308.1	+	0	1742					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCCTCAGGTCTTTGGACTAC	0.687000													17	157					5.35267e-07	5.88498e-07	0.557998	1	0
ANKFN1	162282	broad.mit.edu	37	17	54230890	54230890	+	Splice_Site	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:54230890G>A	ENST00000566473.2	+	1	20	c.21_splice	c.e1+1	p.R7_splice	ANKFN1_ENST00000318698.2_Splice_Site_p.R7_splice|ANKFN1_ENST00000574292.1_3'UTR			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	7										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCTCTAACCAGGGTAGGAAAA	0.488000													11	112					0	0	0.411799	0	0
RTCA	8634	broad.mit.edu	37	1	100736125	100736125	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:100736125C>T	ENST00000370128.4	+	4	472	c.303C>T	c.(301-303)ctC>ctT	p.L101L	RTCA_ENST00000260563.4_Silent_p.L114L|RTCA_ENST00000498617.1_3'UTR	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	101					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										GTGTGTGCCTCTTGATGCAGG	0.398000													43	289					0	0	0.870114	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	by1000genomes	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431																											GAAGTCCCAGTGGGGAACCTT	0.502000													3	61					0	0	0.115264	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843751	100843751	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100843751A>T	ENST00000223114.4	-	2	321	c.155T>A	c.(154-156)cTc>cAc	p.L52H	MOGAT3_ENST00000440203.2_Missense_Mutation_p.L52H|MOGAT3_ENST00000379423.3_Missense_Mutation_p.L52H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	52					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGGGCCAGAGTGACGTGAA	0.527000													7	27					0	0	0.248553	0	0
ATP12A	479	broad.mit.edu	37	13	25276139	25276139	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:25276139T>C	ENST00000218548.6	+	14	2299	c.1966T>C	c.(1966-1968)Tca>Cca	p.S656P	ATP12A_ENST00000381946.3_Missense_Mutation_p.S650P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	650					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGGATCATTTCAGCCAACAG	0.458000													22	131					0	0	0.706142	0	0
WIPF2	147179	broad.mit.edu	37	17	38421105	38421105	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:38421105C>T	ENST00000323571.4	+	5	917	c.677C>T	c.(676-678)gCt>gTt	p.A226V	WIPF2_ENST00000585043.1_Missense_Mutation_p.A226V|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.A226V	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	226						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGACCTCCTGCTCCACCCCCA	0.607000										HNSCC(43;0.11)			29	213					0	0	0.729181	0	0
DYRK4	8798	broad.mit.edu	37	12	4721794	4721794	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:4721794A>T	ENST00000540757.2	+	12	1391	c.1231A>T	c.(1231-1233)Agg>Tgg	p.R411W	DYRK4_ENST00000545342.1_Missense_Mutation_p.R48W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R411W|DYRK4_ENST00000543431.1_Missense_Mutation_p.R411W	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	411						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GCCACAGCCCAGGCCCCAGAC	0.542000													23	149					0	0	0.706142	0	0
MIPEP	4285	broad.mit.edu	37	13	24460635	24460635	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:24460635C>T	ENST00000382172.3	-	2	298	c.200G>A	c.(199-201)gGa>gAa	p.G67E	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	67					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTCAGGAACTCCAAAAAGACC	0.373000													25	120					0	0	0.706142	0	0
PRDM7	11105	broad.mit.edu	37	16	90133294	90133294	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:90133294C>T	ENST00000449207.2	-	4	345	c.326G>A	c.(325-327)aGa>aAa	p.R109K	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	109						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGTTCTCCTCTGAAGGCCAT	0.383000													46	281					0	0	0.870114	0	0
PAMR1	25891	broad.mit.edu	37	11	35463155	35463155	+	Missense_Mutation	SNP	G	G	A	rs149018193		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:35463155G>A	ENST00000378880.2	-	7	1352	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PAMR1_ENST00000378878.3_Missense_Mutation_p.R192C|PAMR1_ENST00000278360.3_Missense_Mutation_p.R320C|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	303	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTAGCATGGCGTCCGTTGATA	0.468000													50	178					0	0	0.870114	0	0
YTHDC1	91746	broad.mit.edu	37	4	69184292	69184292	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:69184292T>C	ENST00000344157.4	-	15	2104	c.1769A>G	c.(1768-1770)aAt>aGt	p.N590S	YTHDC1_ENST00000579690.1_Missense_Mutation_p.N598S|YTHDC1_ENST00000355665.3_Missense_Mutation_p.N572S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	590										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CACATAATCATTGTAGGACTA	0.289000													7	64					0	0	0.278610	0	0
CDH19	28513	broad.mit.edu	37	18	64239419	64239419	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr18:64239419C>T	ENST00000262150.2	-	2	315	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CDH19_ENST00000540086.1_Missense_Mutation_p.R8H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	8					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAACATAAAACGCAGCAGTAA	0.398000													4	99					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67197795	67197795	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:67197795C>T	ENST00000269081.4	-	11	1930	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	ABCA10_ENST00000416101.2_Missense_Mutation_p.G341R|ABCA10_ENST00000432313.2_Missense_Mutation_p.G341R	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	341					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAGAATCCCCATGGCCATCT	0.313000													6	75					0	0	0.248553	0	0
AP001347.6	0	broad.mit.edu	37	21	15399782	15399782	+	RNA	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:15399782G>A	ENST00000428809.1	+	0	41																											CAGAGAGCGGGGTTAGGGCTT	0.602000													3	13					0	0	0.115264	0	0
TPTE	7179	broad.mit.edu	37	21	10934054	10934054	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:10934054T>A	ENST00000298232.7	-	15	1236	c.869A>T	c.(868-870)aAt>aTt	p.N290I	TPTE_ENST00000361285.4_Missense_Mutation_p.N308I|TPTE_ENST00000342420.5_Missense_Mutation_p.N270I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	308	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTGGGGACATTATGATCATC	0.299000													20	438					0	0	0.639603	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711996	94711996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:94711996C>T	ENST00000304338.3	+	13	1571	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	473						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGCAGTGTTCAAGAAAATAA	0.338000													25	148					0	0	0.654019	0	0
FRAS1	80144	broad.mit.edu	37	4	79285132	79285132	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:79285132C>T	ENST00000264895.6	+	22	3086	c.2646C>T	c.(2644-2646)ctC>ctT	p.L882L	FRAS1_ENST00000325942.6_Silent_p.L882L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	882					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527000													3	24					0	0	0.115264	0	0
RYR3	6263	broad.mit.edu	37	15	34040349	34040349	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:34040349C>G	ENST00000389232.4	+	54	8094	c.8024C>G	c.(8023-8025)tCc>tGc	p.S2675C	RYR3_ENST00000415757.3_Missense_Mutation_p.S2675C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2675	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S2675F(1)		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)		GCGCGAGAGTCCCTGAAAACC	0.527000													16	99					0	0	0.539581	0	0
EXOSC1	51013	broad.mit.edu	37	10	99196219	99196219	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:99196219C>T	ENST00000370902.3	-	8	602	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	EXOSC1_ENST00000485122.2_3'UTR|EXOSC1_ENST00000370886.5_Missense_Mutation_p.E174K|EXOSC1_ENST00000370885.4_Missense_Mutation_p.E166K	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	191					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGCAAGAATTCGGGTTGTACT	0.478000													17	174					0	0	0.539581	0	0
EIF3B	8662	broad.mit.edu	37	7	2409153	2409153	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:2409153C>T	ENST00000360876.4	+	10	1506	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S	EIF3B_ENST00000397011.2_Missense_Mutation_p.P484S	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	484					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTTCTGGGTGCCTGAAGACAA	0.473000													46	340					0	0	0.870114	0	0
PGAM4	441531	broad.mit.edu	37	X	77224509	77224509	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:77224509G>A	ENST00000458128.1	-	1	626	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	209					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CAGTCGGCAGGTTCAGCTCCA	0.527000													11	232					0	0	0.435327	0	0
HTR3B	9177	broad.mit.edu	37	11	113803138	113803138	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:113803138G>A	ENST00000260191.2	+	5	753	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	HTR3B_ENST00000537778.1_Missense_Mutation_p.V155I	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	166					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCCATTTGATGTCCAGAATTG	0.428000													4	144					0	0	0.150653	0	0
CASP8	841	broad.mit.edu	37	2	202149860	202149860	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:202149860C>G	ENST00000358485.4	+	8	1497	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S291*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S392*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S360*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.S375*|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	375					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.S392*(3)|p.S434*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGACTGATTCAGAGGAGCAA	0.448000										HNSCC(4;0.00038)			25	112					0	0	0.667858	0	0
ZNF791	163049	broad.mit.edu	37	19	12734621	12734621	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:12734621C>G	ENST00000343325.4	+	2	273	c.111C>G	c.(109-111)ttC>ttG	p.F37L	ZNF791_ENST00000540038.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.F5L|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.F37L	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAAACATTCAAGAACCTGG	0.443000													16	108					0	0	0.539581	0	0
SOD2	6648	broad.mit.edu	37	6	160106063	160106063	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr6:160106063C>T	ENST00000538183.1	-	4	506	c.346G>A	c.(346-348)Gag>Aag	p.E116K	SOD2_ENST00000444946.2_Intron|SOD2_ENST00000337404.4_Missense_Mutation_p.E77K|SOD2_ENST00000546087.1_Missense_Mutation_p.E70K|SOD2_ENST00000367055.4_Missense_Mutation_p.E116K|SOD2_ENST00000367054.2_Missense_Mutation_p.E77K	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	116					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TCCAGCAACTCCCCTATTAAA	0.373000													7	49					0	0	0.335167	0	0
ANPEP	290	broad.mit.edu	37	15	90328694	90328694	+	Silent	SNP	G	G	A	rs145116014		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:90328694G>A	ENST00000300060.6	-	21	3103	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	930	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGCCTGAGCCGAAGCCTGTTT	0.562000													14	212					0	0	0.520397	0	0
FAN1	22909	broad.mit.edu	37	15	31229329	31229329	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:31229329A>G	ENST00000362065.4	+	14	3215	c.2924A>G	c.(2923-2925)gAa>gGa	p.E975G		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	975	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAGCTGGTGGAAGTTAAAGGC	0.398000								Direct reversal of damage					14	134					0	0	0.479597	0	0
BSX	390259	broad.mit.edu	37	11	122849989	122849989	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:122849989G>A	ENST00000343035.2	-	2	487	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	147										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GACAGGCTGAGGGCCGTGGCC	0.612000													43	119					0	0	0.870114	0	0
HARS2	23438	broad.mit.edu	37	5	140073602	140073602	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140073602G>A	ENST00000230771.3	+	3	489	c.266G>A	c.(265-267)gGa>gAa	p.G89E	HARS2_ENST00000448069.2_Intron|HARS2_ENST00000437649.2_Missense_Mutation_p.G89E|HARS2_ENST00000435019.2_Intron|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000508522.1_Missense_Mutation_p.G64E	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	89					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTCATGGAGCAAAGGGG	0.478000													59	245					0	0	0.870114	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27890212	27890212	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:27890212A>G	ENST00000326019.6	+	3	1381	c.1099A>G	c.(1099-1101)Ata>Gta	p.I367V		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	367						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTTTATATAAAGGATCC	0.418000													26	123					0	0	0.681144	0	0
WDFY2	115825	broad.mit.edu	37	13	52313218	52313218	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:52313218A>T	ENST00000298125.5	+	7	812	c.632A>T	c.(631-633)cAg>cTg	p.Q211L		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	211							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACCCAGTCCAGCGGGTGTTG	0.512000													43	215					0	0	0.870114	0	0
PPM1K	152926	broad.mit.edu	37	4	89192268	89192268	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:89192268C>T	ENST00000315194.4	-	4	1004	c.615G>A	c.(613-615)gaG>gaA	p.E205E	PPM1K_ENST00000295908.6_Intron|PPM1K_ENST00000513546.2_Intron|PPM1K_ENST00000506423.1_Silent_p.E205E			Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	0	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTAAGCAGATCTCTCTTTCCA	0.517000													3	43					0	0	0.115264	0	0
NRXN2	9379	broad.mit.edu	37	11	64397889	64397889	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:64397889C>T	ENST00000265459.6	-	19	4203	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E1208K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1241K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1248K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E202K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1248	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTACCGCTCGTTGACCGGC	0.731000													10	60					0	0	0.361761	0	0
VPS13B	157680	broad.mit.edu	37	8	100523369	100523369	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:100523369A>T	ENST00000358544.2	+	29	4448	c.4337A>T	c.(4336-4338)cAt>cTt	p.H1446L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H1421L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1446					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCAGCAGCATGGATTCCTC	0.333000													37	161					0	0	0.819951	0	0
DMXL2	23312	broad.mit.edu	37	15	51806663	51806663	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:51806663C>G	ENST00000251076.5	-	15	2907	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.E874Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.E874Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	874						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.E874*(1)		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)		AAAAATATTTCTGTTTCCTTT	0.318000													32	213					0	0	0.779181	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928406	13928406	+	RNA	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:13928406T>C	ENST00000602743.1	-	0	224																											CCACTGGCCCTAACCCTGGAA	0.627000													2	14					0	0	0.115264	0	0
ABHD15	116236	broad.mit.edu	37	17	27893561	27893561	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:27893561C>G	ENST00000307201.4	-	1	594	c.424G>C	c.(424-426)Gga>Cga	p.G142R	TP53I13_ENST00000584522.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	142						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACACAAGGTCCTACCACCCAG	0.687000													3	28					0	0	0.150653	0	0
FRMPD4	9758	broad.mit.edu	37	X	12701661	12701661	+	Silent	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:12701661C>A	ENST00000380682.1	+	6	1034	c.528C>A	c.(526-528)gtC>gtA	p.V176V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	176					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAATCCTGTCAAAGTACGCT	0.418000													14	90					2.31682e-05	2.47875e-05	0.479597	1	0
MED12	9968	broad.mit.edu	37	X	70349995	70349995	+	Silent	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:70349995T>C	ENST00000333646.6	+	28	4177	c.3978T>C	c.(3976-3978)taT>taC	p.Y1326Y	MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.Y1326Y|MED12_ENST00000374102.1_Silent_p.Y1326Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1326					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCATTTGCTATCCACATCGAC	0.572000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	29					0	0	0.184627	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038893	17038893	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:17038893T>C	ENST00000443236.1	-	25	3468	c.3437A>G	c.(3436-3438)tAc>tGc	p.Y1146C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1099						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCCTCGCTGTAGCTCTCGTC	0.637000													4	91					0	0	0.150653	0	0
KIF4A	24137	broad.mit.edu	37	X	69626750	69626750	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:69626750C>T	ENST00000374403.3	+	28	3162	c.3080C>T	c.(3079-3081)cCt>cTt	p.P1027L	KIF4A_ENST00000374388.3_Missense_Mutation_p.P1027L	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1027	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAGCCAAAACCTTCTCGTGTT	0.363000													19	114					0	0	0.575678	0	0
KIF24	347240	broad.mit.edu	37	9	34255735	34255735	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:34255735C>T	ENST00000379166.2	-	11	3989	c.3870G>A	c.(3868-3870)gcG>gcA	p.A1290A	KIF24_ENST00000402558.2_Silent_p.A1290A|KIF24_ENST00000379174.3_Silent_p.A1156A|KIF24_ENST00000345050.2_Silent_p.A1156A	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1290					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAACTTACTGCGCTTGCTCCA	0.567000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	0.217242	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54730074	54730074	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:54730074A>G	ENST00000355221.3	-	5	882	c.323T>C	c.(322-324)gTt>gCt	p.V108A	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.V68A|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.V108A|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.V108A	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	108					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAAAATGCTAACACGCTGATG	0.413000													13	51					0	0	0.435327	0	0
TRIM37	4591	broad.mit.edu	37	17	57181722	57181722	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:57181722T>C	ENST00000262294.7	-	2	314	c.55A>G	c.(55-57)Atg>Gtg	p.M19V	TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393066.3_Missense_Mutation_p.M19V|TRIM37_ENST00000584889.1_Missense_Mutation_p.M19V|TRIM37_ENST00000393065.2_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	19						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AATTTCTCCATACAAATGAAA	0.408000									Mulibrey Nanism				15	92					0	0	0.520397	0	0
RAB40A	142684	broad.mit.edu	37	X	102755663	102755663	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:102755663C>A	ENST00000372633.1	-	1	2140	c.22G>T	c.(22-24)Gac>Tac	p.D8Y	RAB40A_ENST00000304236.1_Missense_Mutation_p.D8Y			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	8					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TAGGCCTGGTCGGGGCTGCCC	0.667000													12	81					5.16669e-11	5.84188e-11	0.387290	1	0
SCAF11	9169	broad.mit.edu	37	12	46316327	46316327	+	Silent	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:46316327T>C	ENST00000465950.1	-	4	4428	c.3219A>G	c.(3217-3219)aaA>aaG	p.K1073K	SCAF11_ENST00000369367.3_Silent_p.K1388K|SCAF11_ENST00000549162.1_Silent_p.K1196K|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000419565.2_Silent_p.K1388K			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1388					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGATGGCCAATTTTACCTCTT	0.323000													20	96					0	0	0.557998	0	0
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507000													7	38					0	0	0.307466	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710731	103710731	+	Splice_Site	SNP	C	C	T	rs150843319	by1000genomes	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:103710731C>T	ENST00000245312.3	-	2	975	c.377_splice	c.e2-1	p.V127_splice		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	127					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCATGCTGACGCTGAAAGGC	0.423000													14	84					0	0	0.457914	0	0
ATRX	546	broad.mit.edu	37	X	76814235	76814235	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:76814235C>T	ENST00000373344.5	-	29	6623	c.6409G>A	c.(6409-6411)Gct>Act	p.A2137T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.A2099T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2137	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.A2137T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCAAGAAGCGTCGAATATA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						28	170					0	0	0.717897	0	0
USH2A	7399	broad.mit.edu	37	1	215972260	215972260	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:215972260T>A	ENST00000366943.2	-	50	10333	c.9947A>T	c.(9946-9948)aAt>aTt	p.N3316I	USH2A_ENST00000307340.3_Missense_Mutation_p.N3316I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3316					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGAAGGCGATTGTACACCAC	0.483000										HNSCC(13;0.011)			36	128					0	0	0.779181	0	0
ATRX	546	broad.mit.edu	37	X	76939409	76939409	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:76939409C>T	ENST00000373344.5	-	9	1553	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E409K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	447					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAAGGTTTTTCTCCTTTTCGT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						60	379					0	0	0.870114	0	0
MUC17	140453	broad.mit.edu	37	7	100679879	100679879	+	Missense_Mutation	SNP	C	C	T	rs71273404		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:100679879C>T	ENST00000306151.4	+	3	5246	c.5182C>T	c.(5182-5184)Cgt>Tgt	p.R1728C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1728	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)					TACTGAAGCCCGTTCATCTCC	0.498000													58	353					0	0	0.870114	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032788	43032788	+	Missense_Mutation	SNP	C	C	T	rs140159332		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:43032788C>T	ENST00000361740.4	-	2	184	c.185G>A	c.(184-186)cGc>cAc	p.R62H	CYB5R3_ENST00000396303.3_Missense_Mutation_p.R6H|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R6H|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R29H|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R6H|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R6H	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	29	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TGGCGTGGAGCGCTGGAACAG	0.647000													7	23					0	0	0.248553	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947391	57947391	+	Missense_Mutation	SNP	C	C	T	rs2513718		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:57947391C>T	ENST00000335397.3	+	3	791	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	159			R -> L (in dbSNP:rs12420738).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159W(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGCCTTGGTGCGGACAGTCTC	0.537000													24	62					0	0	0.624587	0	0
NAV3	89795	broad.mit.edu	37	12	78452823	78452823	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr12:78452823G>A	ENST00000397909.2	+	12	2737	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	NAV3_ENST00000228327.6_Missense_Mutation_p.R855Q|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.R855Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R855Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	855						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTCTGAACCGAATACCAGAC	0.413000										HNSCC(70;0.22)			20	89					0	0	0.592651	0	0
GPC6	10082	broad.mit.edu	37	13	94482798	94482798	+	Splice_Site	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:94482798G>T	ENST00000377047.4	+	3	1326	c.711_splice	c.e3+1	p.K237_splice	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	237						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGTTTCCAAGGTAATTGAAA	0.398000													9	61					1.12685e-05	1.21871e-05	0.307466	1	0
C11orf30	56946	broad.mit.edu	37	11	76171120	76171120	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:76171120T>C	ENST00000529032.1	+	5	562	c.562T>C	c.(562-564)Tat>Cat	p.Y188H	C11orf30_ENST00000524767.1_Missense_Mutation_p.Y203H|C11orf30_ENST00000525919.1_Missense_Mutation_p.Y189H|C11orf30_ENST00000525038.1_Missense_Mutation_p.Y203H|C11orf30_ENST00000533248.1_Missense_Mutation_p.Y202H|C11orf30_ENST00000343878.3_Missense_Mutation_p.Y188H|C11orf30_ENST00000334736.3_Missense_Mutation_p.Y188H|C11orf30_ENST00000524490.1_Missense_Mutation_p.Y189H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	188	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAGTACTGTTTATGTCAAAAG	0.458000													45	309					0	0	0.870114	0	0
C5orf15	56951	broad.mit.edu	37	5	133295208	133295208	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:133295208T>C	ENST00000231512.3	-	2	845	c.643A>G	c.(643-645)Att>Gtt	p.I215V		NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	215						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGATATGTAATGTAAACAACA	0.294000													12	68					0	0	0.411799	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478129	106478129	+	RNA	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:106478129G>A	ENST00000390596.2	-	0	392																											GTAATACACGGCCGTGTCCGC	0.602000													10	180					0	0	0.575678	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			8	28					0	0	0.307466	0	0
HERC3	8916	broad.mit.edu	37	4	89591032	89591032	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:89591032G>A	ENST00000402738.1	+	15	1894	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	HERC3_ENST00000264345.3_Missense_Mutation_p.C552Y|HERC3_ENST00000543130.1_5'UTR	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	552					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCAGGTATGCCCGAAATAT	0.363000													20	137					0	0	0.681144	0	0
KIF24	347240	broad.mit.edu	37	9	34263141	34263141	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:34263141C>A	ENST00000379166.2	-	9	1592	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	KIF24_ENST00000402558.2_Missense_Mutation_p.Q491H|KIF24_ENST00000379174.3_Missense_Mutation_p.Q357H|KIF24_ENST00000345050.2_Missense_Mutation_p.Q357H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	491					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GGGTGTGTTCCTGATCCAGTG	0.448000													4	61					0.014758	0.0151384	0.184627	1	0
ZNF181	339318	broad.mit.edu	37	19	35231761	35231761	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:35231761A>G	ENST00000392232.3	+	6	775	c.607A>G	c.(607-609)Ata>Gta	p.I203V	ZNF181_ENST00000459757.1_Missense_Mutation_p.I158V|ZNF181_ENST00000492450.1_Missense_Mutation_p.I159V			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CAAATACAATATATTTAGAAG	0.373000													23	104					0	0	0.654019	0	0
PODN	127435	broad.mit.edu	37	1	53543413	53543413	+	Silent	SNP	C	C	T	rs138179023		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:53543413C>T	ENST00000371500.3	+	9	1223	c.882C>T	c.(880-882)cgC>cgT	p.R294R	PODN_ENST00000312553.5_Silent_p.R313R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.R171R	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	265					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCAGCCTGCGCGAGCTATACC	0.612000													39	184					0	0	0.870114	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909693	101909693	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:101909693G>T	ENST00000537097.1	+	6	1665	c.852G>T	c.(850-852)agG>agT	p.R284S	GPRASP1_ENST00000444152.1_Missense_Mutation_p.R284S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R284S|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R284S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	284						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCAGGTTTAGGTCTA	0.483000													19	241					1.56452e-12	1.79965e-12	0.557998	1	0
KLHL26	55295	broad.mit.edu	37	19	18779586	18779586	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:18779586G>T	ENST00000300976.4	+	3	1469	c.1379G>T	c.(1378-1380)gGc>gTc	p.G460V	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	460										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTCAGGGGGCCGCCTCTAC	0.692000													5	24					0.248553	0.251076	0.248553	1	0
PGAP2	27315	broad.mit.edu	37	11	3845337	3845337	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:3845337C>T	ENST00000396993.4	+	3	328	c.250C>T	c.(250-252)Cac>Tac	p.H84Y	PGAP2_ENST00000300730.6_Silent_p.L187L|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000465307.2_Missense_Mutation_p.H134Y|PGAP2_ENST00000278243.4_Silent_p.L191L|PGAP2_ENST00000463452.2_Silent_p.L130L|PGAP2_ENST00000396986.2_Silent_p.L187L|PGAP2_ENST00000493547.2_Silent_p.L130L|PGAP2_ENST00000396991.2_Silent_p.L191L|PGAP2_ENST00000532017.1_3'UTR			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	0					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TGCTAGTGCTCACTTATGTCT	0.612000													6	38					0	0	0.248553	0	0
AJUBA	84962	broad.mit.edu	37	14	23444270	23444270	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:23444270C>T	ENST00000262713.2	-	5	1658	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.R428Q|AJUBA_ENST00000397388.3_Missense_Mutation_p.R11Q	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	428	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AACAATGCATCGGAAACAGCC	0.532000													5	106					0	0	0.184627	0	0
FREM1	158326	broad.mit.edu	37	9	14801743	14801743	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:14801743A>G	ENST00000380881.4	-	21	4419	c.3604T>C	c.(3604-3606)Ttt>Ctt	p.F1202L	FREM1_ENST00000380880.3_Missense_Mutation_p.F1201L|FREM1_ENST00000422223.2_Missense_Mutation_p.F1201L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1201			S -> R (in dbSNP:rs16932300).		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGCTAAACCCCCTATCG	0.522000													12	129					0	0	0.387290	0	0
CNTN5	53942	broad.mit.edu	37	11	100179177	100179177	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:100179177C>G	ENST00000524871.1	+	21	2997	c.2707C>G	c.(2707-2709)Cta>Gta	p.L903V	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.L903V|CNTN5_ENST00000527185.1_Missense_Mutation_p.L903V|CNTN5_ENST00000528682.1_Missense_Mutation_p.L903V|CNTN5_ENST00000418526.2_Missense_Mutation_p.L829V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	903	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAAAGAGAGTCTAGGAAGACC	0.418000													8	49					0	0	0.278610	0	0
TPRN	286262	broad.mit.edu	37	9	140087090	140087090	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:140087090G>A	ENST00000409012.4	-	2	1865	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	TPRN_ENST00000321773.2_Silent_p.S532S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	593	Glu-rich.				sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGAGCTCTCGGAAGGGTACT	0.582000													5	91					0	0	0.217242	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329623	88329623	+	Silent	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:88329623G>A	ENST00000325089.6	+	2	2199	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	SLITRK5_ENST00000400028.3_Silent_p.S419S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	660						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642000													8	51					0	0	0.278610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140386	3140386	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:3140386G>A	ENST00000252463.2	-	5	971	c.884C>T	c.(883-885)gCg>gTg	p.A295V	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A213V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCGCAGTCCGCGCAGATGAA	0.637000													7	129					0	0	0.278610	0	0
SERTAD1	29950	broad.mit.edu	37	19	40928872	40928872	+	Silent	SNP	G	G	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:40928872G>C	ENST00000357949.4	-	2	740	c.582C>G	c.(580-582)ctC>ctG	p.L194L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	194					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCTGGTTTGAGGCCCTCAG	0.582000													6	26					0	0	0.248553	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430782	37430782	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:37430782C>A	ENST00000374660.1	+	7	888	c.789C>A	c.(787-789)agC>agA	p.S263R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S263R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S263R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	319						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CGGCTGAAAGCTTGGTGGAAA	0.483000													8	64					0.000274275	0.000290323	0.307466	1	0
GATA3	2625	broad.mit.edu	37	10	8100579	8100579	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr10:8100579A>G	ENST00000379328.3	+	3	1121	c.553A>G	c.(553-555)Aag>Gag	p.K185E	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.K185E	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	185					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGAGTGCCTCAAGTACCAGGT	0.701000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						11	97					0	0	0.411799	0	0
PHKA2	5256	broad.mit.edu	37	X	18972501	18972501	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:18972501G>T	ENST00000379942.4	-	2	773	c.108C>A	c.(106-108)agC>agA	p.S36R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	36					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCTGCTCATGGCTGGCTGACA	0.562000													25	107					4.26978e-12	4.85535e-12	0.654019	1	0
NRF1	4899	broad.mit.edu	37	7	129297354	129297354	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:129297354G>T	ENST00000393232.1	+	2	280	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	NRF1_ENST00000393231.3_Missense_Mutation_p.D55Y|NRF1_ENST00000353868.4_Missense_Mutation_p.D55Y|NRF1_ENST00000223190.4_Missense_Mutation_p.D55Y|NRF1_ENST00000393230.2_Missense_Mutation_p.D55Y|NRF1_ENST00000311967.2_Missense_Mutation_p.D55Y|NRF1_ENST00000539636.1_5'UTR	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	55	Asp/Glu-rich (acidic).|Dimerization.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTCTTACGATGACTCAGATAT	0.478000													9	124					4.68919e-08	5.21312e-08	0.361761	1	0
THRAP3	9967	broad.mit.edu	37	1	36755247	36755247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr1:36755247G>T	ENST00000354618.5	+	5	1851	c.1627G>T	c.(1627-1629)Gag>Tag	p.E543*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.E543*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	543					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACCTCTGAGAGCCGAGA	0.507000			T	USP6	aneurysmal bone cysts								24	198					6.12954e-19	7.30406e-19	0.681144	1	0
MIR506	574511	broad.mit.edu	37	X	146312342	146312342	+	RNA	SNP	G	G	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:146312342G>T	ENST00000384998.1	-	0	19					NR_030233.1																						ACTACACATAGTATGGCTGAT	0.428000													22	137					2.12542e-12	2.43079e-12	0.706142	1	0
BMS1P20	96610	broad.mit.edu	37	22	22662995	22662995	+	RNA	SNP	C	C	T	rs79792109	by1000genomes	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:22662995C>T	ENST00000426066.1	+	0	500					NR_027293.1																						TTTATTGTGTCACATAGAATT	0.348000													3	36					0	0	0.115264	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908254	164908254	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:164908254T>C	ENST00000475390.1	-	2	808	c.365A>G	c.(364-366)aAt>aGt	p.N122S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N122S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	122						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAAGACCATTGAAAGCTCC	0.348000										HNSCC(40;0.11)			22	106					0	0	0.592651	0	0
OR6T1	219874	broad.mit.edu	37	11	123813728	123813728	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:123813728C>A	ENST00000321252.2	-	1	852	c.818G>T	c.(817-819)gGt>gTt	p.G273V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GACGGAGGCACCTTTGTTGAG	0.512000													70	226					5.02462e-34	6.06e-34	0.870114	1	0
PTX3	5806	broad.mit.edu	37	3	157160520	157160520	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:157160520C>T	ENST00000295927.3	+	3	1043	c.898C>T	c.(898-900)Cac>Tac	p.H300Y	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	300	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGCCACAGGTCACATTGTTCC	0.532000													9	83					0	0	0.335167	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096607	73096607	+	Silent	SNP	C	C	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:73096607C>T	ENST00000450736.2	+	4	1264	c.849C>T	c.(847-849)agC>agT	p.S283S	SLC16A5_ENST00000580123.1_Silent_p.S283S|SLC16A5_ENST00000329783.4_Silent_p.S283S|SLC16A5_ENST00000538213.2_Silent_p.S323S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	283					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.S283S(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCGGCTTCAGCAACATCTTCC	0.617000													11	653					0	0	0.387290	0	0
CT47B1	643311	broad.mit.edu	37	X	120008795	120008795	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chrX:120008795G>A	ENST00000371311.3	-	1	984	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	244										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTGCGGCCGGTtcctctgtg	0.692000													34	197					0	0	0.819951	0	0
DSCR3	10311	broad.mit.edu	37	21	38610786	38610786	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr21:38610786T>C	ENST00000288304.5	-	3	992	c.200A>G	c.(199-201)tAt>tGt	p.Y67C	DSCR3_ENST00000476950.1_Missense_Mutation_p.Y109C|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000309117.6_Missense_Mutation_p.Y109C|DSCR3_ENST00000398998.1_Missense_Mutation_p.Y61C|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Intron			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	109					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CACGCCATGATACGTCTCATA	0.448000													7	162					0	0	0.248553	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536984	140536984	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr5:140536984C>A	ENST00000539533.1	+	1	1408	c.1408C>A	c.(1408-1410)Cac>Aac	p.H470N																								CCCCGCCCTGCACATCGGCAG	0.642000													19	153					5.91797e-21	7.09443e-21	0.760397	1	0
SF1	7536	broad.mit.edu	37	11	64536792	64536792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:64536792G>A	ENST00000377390.3	-	7	1019	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	SF1_ENST00000227503.9_Nonsense_Mutation_p.Q228*|SF1_ENST00000377387.1_Nonsense_Mutation_p.Q353*|SF1_ENST00000334944.5_Nonsense_Mutation_p.Q228*|SF1_ENST00000433274.2_Nonsense_Mutation_p.Q202*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377394.3_Nonsense_Mutation_p.Q228*|SF1_ENST00000422298.2_Nonsense_Mutation_p.Q113*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	228					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCGATACCCTGCTTCAGGATG	0.502000													6	121					0	0	0.248553	0	0
LRRN3	54674	broad.mit.edu	37	7	110762919	110762919	+	Silent	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:110762919C>A	ENST00000451085.1	+	4	1137	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.R31R|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Silent_p.R31R|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	31	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGATTGTCCACGGTTATGTAC	0.408000													21	148					2.37509e-13	2.74793e-13	0.592651	1	0
TYRO3	7301	broad.mit.edu	37	15	41870164	41870164	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:41870164A>T	ENST00000263798.3	+	19	2587	c.2363A>T	c.(2362-2364)aAc>aTc	p.N788I	TYRO3_ENST00000559066.1_Missense_Mutation_p.N743I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	788	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAACTGGAGAACATCTTGGGC	0.572000													9	102					0	0	0.307466	0	0
FAM208A	23272	broad.mit.edu	37	3	56681252	56681252	+	Splice_Site	SNP	C	C	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr3:56681252C>A	ENST00000431842.2	-	7	1250		c.e7-1		FAM208A_ENST00000493960.2_Splice_Site|FAM208A_ENST00000355628.5_Splice_Site	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A											NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CCTTTTTGTGCTGTAAATAAA	0.318000													17	88					2.94398e-08	3.29131e-08	0.557998	1	0
PRR21	643905	broad.mit.edu	37	2	240982244	240982257	+	Frame_Shift_Del	DEL	TGGATGAAGGGCCA	TGGATGAAGGGCCA	-	rs140532642	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr2:240982244_240982257delTGGATGAAGGGCCA	ENST00000408934.1	-	1	142_155	c.143_156delTGGCCCTTCATCCA	c.(142-156)afs	p.MALHP48fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	48	Pro-rich.							p.H51H(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						TGAAGAGCCGTGGATGAAGGGCCATGGGTGAAGA	0.575													22	42	---	---	---	---					
RP11-269F21.3	0	broad.mit.edu	37	4	112920465	112920465	+	RNA	DEL	A	A	-			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:112920465delA	ENST00000511219.1	-	0	134																											ggaaggaaggaaagggagggg	0.562													3	3	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr4:119745872_119745873insG	ENST00000379735.5	-	3	421_422	c.150_151insC	c.(148-153)gcccgcfs	p.R51fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.540													34	217	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662349	72662349	+	RNA	DEL	A	A	-			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr7:72662349delA	ENST00000425256.1	-	0	1007					NR_002164.1																						ctctgtctccaaaaaaaaaaa	0.478													4	5	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673269	6673270	+	RNA	INS	-	-	A	rs112269595		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:6673269_6673270insA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GAGCCCATTGTAAAAAAAAAAA	0.505											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
WWP1	11059	broad.mit.edu	37	8	87470164	87470165	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:87470164_87470165insA	ENST00000517970.1	+	22	2716_2717	c.2409_2410insA	c.(2407-2412)ggtgcafs	p.A804fs	WWP1_ENST00000349423.2_Frame_Shift_Ins_p.A586fs|WWP1_ENST00000265428.4_Frame_Shift_Ins_p.A804fs|WWP1_ENST00000341922.2_Frame_Shift_Ins_p.A674fs	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	804	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTTGTGTGGCATGCAGGAGGT	0.376													32	194	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													2	4	---	---	---	---					
PGM5P2	595135	broad.mit.edu	37	9	69128391	69128394	+	RNA	DEL	AAGA	AAGA	-	rs62555835		TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:69128391_69128394delAAGA	ENST00000591037.1	-	0	430					NR_002836.2																						tgtctgaaggaagaaaggaaggaa	0.480													2	4	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gat>ga	p.ED273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													7	317	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													7	118	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77625189	77625190	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr13:77625189_77625190insA	ENST00000407578.2	-	82	14129_14130	c.13863_13864insT	c.(13861-13866)caatgafs	p.Q*4621fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.Q*4583fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.Q*4583fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAAATCATCATGACAAGCAT	0.347													23	138	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450566	23450567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr14:23450566_23450567insC	ENST00000262713.2	-	1	1284_1285	c.909_910insG	c.(907-912)ggttgafs	p.*304fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.*304fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	304	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GACGGCTCAATCCCCGAGGGTT	0.703													9	49	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43701208	43701209	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr15:43701208_43701209insG	ENST00000263801.3	-	26	5723_5724	c.5471_5472insC	c.(5470-5472)ctgfs	p.L1824fs	TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.L1829fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.L1779fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.L1827fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1824	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGACACACAAGGAATCCCACT	0.490								Other conserved DNA damage response genes					16	123	---	---	---	---					
METRN	79006	broad.mit.edu	37	16	765975	765975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr16:765975delG	ENST00000568223.2	+	2	671	c.496delG	c.(496-498)gcfs	p.G166fs		NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	166										skin(1)	1		Hepatocellular(780;0.00335)				CCACGGTCTCGGCGTAGACGG	0.711													2	4	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1																						GACGCTGTTCTTttttttttt	0.453													2	4	---	---	---	---					
DSCAS	101927698	broad.mit.edu	37	18	28696744	28696745	+	RNA	INS	-	-	GAAA			TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr18:28696744_28696745insGAAA	ENST00000581836.1	+	0	208																											aaagaaagaaaggaagaaagaa	0.386													2	4	---	---	---	---					
JAK3	3718	broad.mit.edu	37	19	17954641	17954642	+	Frame_Shift_Ins	INS	-	-	C	rs139738701	byFrequency	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr19:17954641_17954642insC	ENST00000458235.1	-	3	351_352	c.252_253insG	c.(250-255)ccgccafs	p.P85fs	JAK3_ENST00000534444.1_Frame_Shift_Ins_p.P85fs|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Frame_Shift_Ins_p.P85fs	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	85	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAGATGTGGCTCGGGGGGAACC	0.589		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								13	69	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35589672	35589673	+	RNA	INS	-	-	GAAG	rs140037973	by1000genomes	TCGA-BA-5556-01A-01D-1512-08	TCGA-BA-5556-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31fda32-363b-44e4-8f2c-834a66f46b87	39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7	g.chr22:35589672_35589673insGAAG	ENST00000423311.1	-	0	222																											agggaagggaagaaggaaggaa	0.535													4	9	---	---	---	---