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
OBSCN	84033	broad.mit.edu	37	1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	ENST00000570156.2	+	23	6874	c.6800C>T	c.(6799-6801)aCc>aTc	p.T2267I	OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1250					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T2175I(1)|p.T1892I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642000													6	32					0	0	0.029380	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GTGGGCAAGCGCGGCATCGAG	0.697000													10	50					0	0	0.080935	0	0
DSCAM	1826	broad.mit.edu	37	21	41684282	41684282	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	ENST00000400454.1	-	9	2265	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448000													5	26					0	0	0.014758	0	0
SSPO	23145	broad.mit.edu	37	7	149493511	149493511	+	RNA	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607000													4	155					0	0	0.014758	0	0
MCMDC2	157777	broad.mit.edu	37	8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	rs142662778	byFrequency	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:67809157C>T	ENST00000422365.2	+	12	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	530					DNA replication		ATP binding|DNA binding	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398000													5	269					0	0	0.021553	0	0
SETD2	29072	broad.mit.edu	37	3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	ENST00000409792.3	-	3	2735	c.2693T>G	c.(2692-2694)tTg>tGg	p.L898W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.L395W(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378000			"""N, F, S, Mis"""		clear cell renal carcinoma								8	273					0	0	0.038147	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	182					0	0	0.029380	0	0
NXF4	0	broad.mit.edu	37	X	101826202	101826202	+	RNA	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:101826202G>T	ENST00000360035.2	+	0	3342					NR_002216.1															endometrium(2)|lung(8)	10						CTATTCTCCAGGTGAGATCTG	0.498000													6	9					3.59834e-05	4.03014e-05	0.021553	1	0
LCN12	286256	broad.mit.edu	37	9	139847394	139847394	+	Silent	SNP	G	G	A	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	ENST00000371633.3	+	2	165	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	55					lipid metabolic process	extracellular region	binding|transporter activity	p.P55P(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637000													39	233					0	0	0.104719	0	0
SYNE2	23224	broad.mit.edu	37	14	64557603	64557603	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr14:64557603G>A	ENST00000357395.3	+	61	12112	c.968G>A	c.(967-969)cGt>cAt	p.R323H	SYNE2_ENST00000555002.1_Missense_Mutation_p.R572H|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3938H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3971H|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3938H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R323H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3938					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R3938H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATATACGTCCCATGAAG	0.358000													16	98					0	0	0.043863	0	0
ZNF283	284349	broad.mit.edu	37	19	44352238	44352238	+	Silent	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:44352238C>G	ENST00000324461.7	+	7	1782	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	ZNF283_ENST00000588797.1_Silent_p.T356T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T495T(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCGGAAAGACCTTTTGTAGTG	0.413000													15	218					0	0	0.132662	0	0
RP1	6101	broad.mit.edu	37	8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	ENST00000220676.1	+	4	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	355					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K355I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353000													10	60					0	0	0.058154	0	0
EPG5	57724	broad.mit.edu	37	18	43505804	43505804	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:43505804G>A	ENST00000282041.5	-	14	2652	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	873					autophagy			p.A873V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCGAATCACCGCTATCTCAGA	0.353000													18	170					0	0	0.033300	0	0
MCF2L	23263	broad.mit.edu	37	13	113729393	113729393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr13:113729393C>T	ENST00000397030.1	+	11	1334	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	MCF2L_ENST00000423482.2_Missense_Mutation_p.R398C|MCF2L_ENST00000421756.1_Missense_Mutation_p.R404C|MCF2L_ENST00000375597.4_Missense_Mutation_p.R398C|MCF2L_ENST00000434480.2_Missense_Mutation_p.R406C|MCF2L_ENST00000535094.2_Missense_Mutation_p.R400C|MCF2L_ENST00000375608.3_Missense_Mutation_p.R430C|MCF2L_ENST00000375604.2_Missense_Mutation_p.R457C|MCF2L_ENST00000375601.3_Missense_Mutation_p.R404C|MCF2L_ENST00000442652.2_Missense_Mutation_p.R430C			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R404C(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGACTCCATCCGCCCAAAGTG	0.662000													21	138					0	0	0.049695	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	ENST00000357701.5	+	3	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	41					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627000													8	20					0	0	0.080935	0	0
RYR3	6263	broad.mit.edu	37	15	33954939	33954939	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr15:33954939C>T	ENST00000389232.4	+	35	5278	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RYR3_ENST00000415757.3_Silent_p.G1736G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1736	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1736G(2)		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)		TGGTCATGGGCGTGTTTGATG	0.567000													20	115					0	0	0.049695	0	0
PEG3	5178	broad.mit.edu	37	19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	259					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q259K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488000													5	41					0.000602214	0.000665605	0.014758	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	ENST00000317658.3	+	1	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438000													4	201					0	0	0.021553	0	0
OR6C76	390326	broad.mit.edu	37	12	55820712	55820712	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	ENST00000328314.3	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I225I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363000													18	108					0	0	0.033300	0	0
MUC4	4585	broad.mit.edu	37	3	195505835	195505835	+	Missense_Mutation	SNP	C	C	T	rs58500707	by1000genomes	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:195505835C>T	ENST00000463781.3	-	2	13075	c.12616G>A	c.(12616-12618)Gcc>Acc	p.A4206T	MUC4_ENST00000475231.1_Missense_Mutation_p.A4206T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	969					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A4206T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.597000													3	14					0	0	0.115264	0	0
PON1	5444	broad.mit.edu	37	7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	ENST00000222381.3	-	5	667	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_ENST00000542556.1_Missense_Mutation_p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	146					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.F146V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353000													34	177					0	0	0.050027	0	0
SZT2	23334	broad.mit.edu	37	1	43897409	43897409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:43897409A>G	ENST00000562955.1	+	35	4940	c.4940A>G	c.(4939-4941)gAg>gGg	p.E1647G	SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1704						peroxisome		p.E805G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGGAAGATGAGATGGTGGGG	0.567000													3	162					0	0	0.115264	0	0
LYST	1130	broad.mit.edu	37	1	235840808	235840808	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:235840808C>T	ENST00000389794.3	-	49	11086	c.10912G>A	c.(10912-10914)Gga>Aga	p.G3638R	LYST_ENST00000389793.2_Missense_Mutation_p.G3638R|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3638					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.G3638R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGCAGGTTCCGTCTCTGCTC	0.338000													34	237					0	0	0.080422	0	0
JAM2	58494	broad.mit.edu	37	21	27078323	27078323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:27078323G>A	ENST00000480456.1	+	7	1280	c.730G>A	c.(730-732)Gta>Ata	p.V244I	JAM2_ENST00000425221.2_Missense_Mutation_p.V208I|JAM2_ENST00000312957.5_Missense_Mutation_p.V244I|JAM2_ENST00000400532.1_Missense_Mutation_p.V244I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	244					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.V244I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATAGCAGCCGTAGTAGTTGT	0.393000													16	121					0	0	0.055883	0	0
FBXO11	80204	broad.mit.edu	37	2	48059590	48059590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:48059590C>T	ENST00000403359.3	-	11	1368	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	FBXO11_ENST00000402508.1_Silent_p.A348A|FBXO11_ENST00000316377.4_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328000			"""Mis, F, D"""		DLBCL								18	128					0	0	0.038395	0	0
RSBN1	54665	broad.mit.edu	37	1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	ENST00000261441.5	-	4	1604	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	514						nucleus		p.S514C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428000													40	188					0	0	0.086207	0	0
GNPAT	8443	broad.mit.edu	37	1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	8	Poly-Ser.				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.N8D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617000													26	162					0	0	0.045705	0	0
ZNF579	163033	broad.mit.edu	37	19	56090151	56090151	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	ENST00000325421.4	-	2	883	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L285L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731000													4	38					0	0	0.021553	0	0
RBL1	5933	broad.mit.edu	37	20	35668590	35668590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	ENST00000373664.3	-	14	1935	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_ENST00000344359.3_Silent_p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	623	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.K623K(1)		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)				TTCGAACTTCCTTGACTCTTG	0.418000													22	222					0	0	0.069288	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204545	11204545	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	362					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.M362V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443000													58	123					0	0	0.139131	0	0
SP140L	93349	broad.mit.edu	37	2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	ENST00000243810.6	+	3	145	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	49	HSR.					nucleus	DNA binding|metal ion binding	p.V49F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423000													14	454					3.27435e-08	3.92922e-08	0.119110	1	0
GUSBP1	0	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													4	24					0	0	0.014758	0	0
FAT4	79633	broad.mit.edu	37	4	126242091	126242091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:126242091C>T	ENST00000394329.3	+	1	4538	c.4525C>T	c.(4525-4527)Cgg>Tgg	p.R1509W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1509	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1509W(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACTAGACGGTATGCTTT	0.403000													52	285					0	0	0.139131	0	0
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:49723304C>T	ENST00000449682.2	-	10	1600	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682000													4	112					0	0	0.014758	0	0
ASPM	259266	broad.mit.edu	37	1	197104365	197104365	+	Silent	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	ENST00000367409.4	-	5	2290	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_ENST00000294732.7_Silent_p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					mitosis	cytoplasm|nucleus	calmodulin binding	p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333000													12	100					0	0	0.105934	0	0
AMBN	258	broad.mit.edu	37	4	71472377	71472377	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:71472377C>T	ENST00000322937.6	+	13	1377	c.1274C>T	c.(1273-1275)aCa>aTa	p.T425I	AMBN_ENST00000449493.2_Missense_Mutation_p.T410I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	425					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.T425I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCTGCAAACATCCATGCCA	0.488000													22	93					0	0	0.055883	0	0
TAAR9	134860	broad.mit.edu	37	6	132859537	132859537	+	RNA	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:132859537G>A	ENST00000434551.1	+	0	109					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity	p.A37T(1)				Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCCTCTACGCCGTCCTTGG	0.478000													12	63					0	0	0.105934	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:42824964C>A	ENST00000314073.5	+	10	2420	c.2244C>A	c.(2242-2244)gaC>gaA	p.D748E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E					GLTSCR1-like									p.D748E(1)									CTGAAGAAGACTTGAGAAAAG	0.542000													20	131					4.96729e-08	5.79517e-08	0.049695	1	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230640	29230640	+	RNA	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:29230640G>T	ENST00000441381.1	+	0	79																		p.A240E(1)									GGTCCCAAATGCTTTTTGTCT	0.418000													21	134					1.96292e-10	2.38964e-10	0.055883	1	0
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294000													6	40					0	0	0.021553	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32551955	32551955	+	Missense_Mutation	SNP	G	G	C	rs67798196		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:32551955G>C	ENST00000360004.5	-	2	406	c.301C>G	c.(301-303)Cgg>Ggg	p.R101G		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1									p.R101fs*28(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACCGCGGCCCGCGCCTGCTCC	0.682000										Multiple Myeloma(14;0.17)			2	5					0	0	0.115264	0	0
DPY19L2P1	0	broad.mit.edu	37	7	35142675	35142675	+	RNA	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:35142675C>T	ENST00000436258.1	-	0	1811																											ATTATCAAAACGAACTCTGCG	0.338000													3	73					0	0	0.115264	0	0
KYNU	8942	broad.mit.edu	37	2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	ENST00000264170.4	+	12	1246	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	330					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R330*(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTGTGGATTCCGAATTTCAAA	0.373000													63	486					0	0	0.139131	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	ENST00000316737.1	+	5	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	192						integral to membrane		p.D192G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473000													5	78					0	0	0.014758	0	0
SORCS3	22986	broad.mit.edu	37	10	106974254	106974254	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:106974254C>T	ENST00000369701.3	+	18	2657	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SORCS3_ENST00000369699.4_Silent_p.T96T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	810						integral to membrane	neuropeptide receptor activity	p.T810T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTACACCGCCAAGGCCC	0.537000													4	97					0	0	0.009096	0	0
EHMT2	10919	broad.mit.edu	37	6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	ENST00000395728.3	-	23	3224	c.3225C>A	c.(3223-3225)aaC>aaA	p.N1075K	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1018	Interaction with histone H3 (By similarity).|SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.N1018K(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572000													4	76					2.0095e-06	2.28105e-06	0.029380	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	52					0	0	0.009096	0	0
FEZF1	389549	broad.mit.edu	37	7	121943288	121943288	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:121943288G>A	ENST00000442488.2	-	2	946	c.879C>T	c.(877-879)tgC>tgT	p.C293C	FEZF1_ENST00000331178.4_Silent_p.C289C|FEZF1_ENST00000427185.2_Silent_p.C243C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	293					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C293C(1)|p.C289C(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCTTTTCCGCACACTTTGC	0.463000													25	134					0	0	0.099896	0	0
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473000													5	141					0	0	0.021553	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:61170910C>A	ENST00000382771.4	+	7	1375	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	361					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGGCACAACAAAACTCGAA	0.443000													14	395					1.15088e-07	1.3243e-07	0.146539	1	0
C12orf63	0	broad.mit.edu	37	12	97085090	97085090	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:97085090T>A	ENST00000524981.3	+	11	1617		c.e11+2					Q6ZTY8	CL063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AACCTAATAGTAAGTAATTTG	0.318000													4	95					0	0	0.009096	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													3	68					0	0	0.115264	0	0
MYH15	22989	broad.mit.edu	37	3	108112995	108112995	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	ENST00000273353.3	-	37	5258	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1734						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1734S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478000													30	150					0	0	0.144211	0	0
FAM134B	54463	broad.mit.edu	37	5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	ENST00000306320.9	-	9	1425	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	447					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.T447A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493000													21	133					0	0	0.055883	0	0
ABCA13	154664	broad.mit.edu	37	7	48327660	48327660	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:48327660G>A	ENST00000435803.1	+	20	8964	c.8940G>A	c.(8938-8940)gcG>gcA	p.A2980A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2980					transport	integral to membrane	ATP binding|ATPase activity	p.A2980A(2)|p.A2925A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACTTTGGCGCAGGACCACT	0.438000													55	221					0	0	0.139131	0	0
CLTC	1213	broad.mit.edu	37	17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000393043.1_Missense_Mutation_p.A358V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	358	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A358V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATAACTTAGCCGGTGCTGAA	0.433000			T	"""ALK, TFE3"""	"""ALCL, renal """								6	443					0	0	0.021553	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	RNA	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393000													3	17					0	0	0.115264	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	937	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V937A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368000													48	267					0	0	0.139131	0	0
CFH	3075	broad.mit.edu	37	1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	ENST00000367429.4	+	14	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	695	Sushi 12.				complement activation, alternative pathway	extracellular space		p.P695H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353000													29	169					1.13719e-10	1.40476e-10	0.134883	1	0
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:21962615T>A	ENST00000377072.3	+	11	1736	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398000			T	"""MLL, PICALM, CDK6"""	AL								7	340					0	0	0.029380	0	0
STAG3L1	0	broad.mit.edu	37	7	74991539	74991539	+	RNA	DEL	C	C	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:74991539delC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN								nucleus	binding										AGAGCATGttctttttttttt	0.418													3	3	---	---	---	---					
C16orf13	84326	broad.mit.edu	37	16	685626	685626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr16:685626delG	ENST00000301686.8	-	2	357	c.346delC	c.(346-348)tgfs	p.L116fs	C16orf13_ENST00000397665.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000397664.4_Intron|C16orf13_ENST00000397666.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000338401.4_Intron	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	116										large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCAGCGCAGGGGGCTGACA	0.657													2	4	---	---	---	---					
AMZ2P1	0	broad.mit.edu	37	17	62968909	62968909	+	RNA	DEL	T	T	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:62968909delT	ENST00000430983.1	-	0	1426					NR_026903.1																						TCTCATTGACTCTAAAGGAAC	0.358													11	56	---	---	---	---					
AP001255.2	0	broad.mit.edu	37	21	24474307	24474307	+	RNA	DEL	A	A	-	rs58069067		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:24474307delA	ENST00000421604.1	+	0	297																											catttctactaaaaaaaaaaa	0.493													2	4	---	---	---	---