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
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:95385332G>A	ENST00000371447.3	+	5	1003	c.864_splice	c.e5-1	p.E289_splice		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000													4	35					0	0	0.000602214	0	0
TMEM177	80775	broad.mit.edu	37	2	120438625	120438625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:120438625C>T	ENST00000424086.1	+	2	669	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	TMEM177_ENST00000409951.1_Nonsense_Mutation_p.Q66*|TMEM177_ENST00000272521.6_Nonsense_Mutation_p.Q66*|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Nonsense_Mutation_p.Q66*	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	66						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GAGCCTCTTCCAAGAGGTGCT	0.592000													49	88					0	0	0.000781405	0	0
ZNF827	152485	broad.mit.edu	37	4	146824143	146824143	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:146824143C>T	ENST00000508784.1	-	2	495	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	ZNF827_ENST00000379448.4_Missense_Mutation_p.V90I|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTCGCAGGACCTCACTGTCC	0.597000													16	26					0	0	0.000308642	0	0
ILDR2	387597	broad.mit.edu	37	1	166891843	166891843	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891843T>A	ENST00000271417.3	-	8	1253	c.1198A>T	c.(1198-1200)Agc>Tgc	p.S400C	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S400C|ILDR2_ENST00000525740.1_Missense_Mutation_p.S273C|ILDR2_ENST00000528703.1_Missense_Mutation_p.S341C|ILDR2_ENST00000526687.1_Missense_Mutation_p.S292C|ILDR2_ENST00000529071.1_Missense_Mutation_p.S381C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	400						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGCCTGAAGCTCTCTCGATCC	0.597000													50	142					0	0	0.000781405	0	0
GPR179	440435	broad.mit.edu	37	17	36482717	36482717	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:36482717C>T	ENST00000342292.4	-	11	6755	c.6735G>A	c.(6733-6735)gaG>gaA	p.E2245E	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2245						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCAGTTTCCTCCCCAGGAC	0.493000													21	58					0	0	0.00047179	0	0
DLG1	1739	broad.mit.edu	37	3	196786775	196786775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:196786775G>A	ENST00000346964.2	-	24	2756	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	DLG1_ENST00000419354.1_Missense_Mutation_p.S834F|DLG1_ENST00000443183.1_Missense_Mutation_p.S730F|DLG1_ENST00000422288.1_Missense_Mutation_p.S783F|DLG1_ENST00000450955.1_Missense_Mutation_p.S823F|DLG1_ENST00000448528.2_Missense_Mutation_p.S834F|DLG1_ENST00000452595.1_Missense_Mutation_p.S718F|DLG1_ENST00000357674.4_Missense_Mutation_p.S823F|DLG1_ENST00000314062.3_Missense_Mutation_p.S783F|DLG1_ENST00000392382.2_Missense_Mutation_p.S801F	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	834	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTCCATGGATTTGGGTTT	0.373000													17	48					0	0	0.000958276	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269600	30269600	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:30269600G>A	ENST00000378981.3	+	4	1311	c.990G>A	c.(988-990)acG>acA	p.T330T	MAGEB1_ENST00000397550.1_Silent_p.T330T|MAGEB1_ENST00000397548.2_Silent_p.T330T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTACTGCCACGACTTTTAGAG	0.527000													28	10					0	0	0.000184323	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562599	145562599	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145562599C>T	ENST00000355594.4	+	10	2374	c.2287C>T	c.(2287-2289)Ccg>Tcg	p.P763S		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	763										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCTTGTCCCCGTGTAGGGA	0.662000													3	4					0	0	6.4e-05	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406278	144406278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144406278C>T	ENST00000523676.1	-	8	962	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	TOP1MT_ENST00000519148.1_Missense_Mutation_p.R186Q|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R186Q|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R284Q			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	284					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCGCAGGCGTCGAGCTGTTTC	0.517000													11	108					0	0	0.000151284	0	0
FMO1	2326	broad.mit.edu	37	1	171251405	171251405	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:171251405C>T	ENST00000354841.4	+	6	1247	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	FMO1_ENST00000367750.3_Silent_p.I372I|FMO1_ENST00000402921.2_Silent_p.I309I|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	372					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCCTCATCAAACCCTTGG	0.468000													26	64					0	0	0.000227799	0	0
OR10R2	343406	broad.mit.edu	37	1	158450564	158450564	+	Silent	SNP	G	G	A	rs146808200		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:158450564G>A	ENST00000368152.1	+	1	897	c.897G>A	c.(895-897)acG>acA	p.T299T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433000													24	25					0	0	0.000720815	0	0
MYO18B	84700	broad.mit.edu	37	22	26423026	26423026	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:26423026G>A	ENST00000335473.7	+	43	7336	c.7086G>A	c.(7084-7086)ggG>ggA	p.G2362G	MYO18B_ENST00000407587.2_Silent_p.G2363G|MYO18B_ENST00000536101.1_Silent_p.G2362G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2362						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATGGGGAGAAAACTGA	0.582000													24	65					0	0	0.000184323	0	0
C8orf86	389649	broad.mit.edu	37	8	38370031	38370031	+	Missense_Mutation	SNP	G	G	A	rs138372010		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:38370031G>A	ENST00000437935.2	-	2	392	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C8orf86_ENST00000358138.1_Silent_p.S182S			Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	0										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						tcagttccccggagattctga	0.537000													24	57					0	0	0.000878237	0	0
PLK3	1263	broad.mit.edu	37	1	45270368	45270368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:45270368G>A	ENST00000372201.4	+	13	1791	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	518	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCTTCTCCGTGGGTGCTGT	0.617000													16	145					0	0	0.000132079	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854219	55854219	+	Splice_Site	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:55854219G>A	ENST00000255613.3	+	4	634	c.386_splice	c.e4+1	p.W129_splice	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	129	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACTCGTGCTTGGTAAGAGGGC	0.592000													9	20					0	0	0.000442599	0	0
GAS6	2621	broad.mit.edu	37	13	114531609	114531609	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:114531609C>G	ENST00000357389.3	-	11	1500	c.1348G>C	c.(1348-1350)Ggg>Cgg	p.G450R	GAS6_ENST00000355761.4_Missense_Mutation_p.G353R|GAS6_ENST00000450766.1_Missense_Mutation_p.G134R|GAS6_ENST00000418959.3_Missense_Mutation_p.G108R|GAS6_ENST00000327773.6_Missense_Mutation_p.G407R|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA			Q14393	GAS6_HUMAN	growth arrest-specific 6	450	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AACAAGTCCCCGGCCACCGCG	0.552000													16	53					0	0	0.000422831	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635934	233635934	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:233635934T>G	ENST00000233826.3	-	2	278	c.139A>C	c.(139-141)Atc>Ctc	p.I47L	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.I47L|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.I47L|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	47						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TCCATTAGGATTCCCCAAGCA	0.488000													11	32					0	0	0.000673444	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509700	26509700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:26509700C>T	ENST00000361530.6	+	7	782	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	CNKSR1_ENST00000374253.5_Missense_Mutation_p.H213Y|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	213	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAGAAATTCACACCACCAG	0.622000													49	119					0	0	0.000781405	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350745	134350745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:134350745C>T	ENST00000357304.4	+	15	3284	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTCACTTTTCGTGGTCGGCC	0.627000													15	12					0	0	0.000308642	0	0
SRSF3	6428	broad.mit.edu	37	6	36566700	36566700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:36566700C>T	ENST00000373715.6	+	3	397	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SRSF3_ENST00000339436.7_Missense_Mutation_p.P94L	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	94	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GGCCCACCTCCCTCTTGGGGT	0.483000													5	106					0	0	8.12818e-05	0	0
TRIML2	205860	broad.mit.edu	37	4	189012722	189012722	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:189012722G>A	ENST00000512729.1	-	7	1343	c.969C>T	c.(967-969)ttC>ttT	p.F323F	TRIML2_ENST00000326754.3_Silent_p.F348F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	323	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CGCAGTCAAGGAAAACGCCAA	0.532000													40	78					0	0	0.000270559	0	0
NAV3	89795	broad.mit.edu	37	12	78443775	78443775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:78443775G>A	ENST00000397909.2	+	10	2199	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	NAV3_ENST00000536525.2_Missense_Mutation_p.E676K|NAV3_ENST00000228327.6_Missense_Mutation_p.E676K|NAV3_ENST00000266692.7_Missense_Mutation_p.E676K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	676						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						TTTCCTAGGTGAAGACCCTGA	0.338000										HNSCC(70;0.22)			9	22					0	0	0.000673444	0	0
UPK1A	11045	broad.mit.edu	37	19	36166795	36166795	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:36166795C>T	ENST00000222275.2	+	5	522	c.522C>T	c.(520-522)gcC>gcT	p.A174A	UPK1A_ENST00000379013.2_Silent_p.A174A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	174					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACGTCAGCCTTCCGGGCGG	0.642000													11	33					0	0	0.00010058	0	0
TPP2	7174	broad.mit.edu	37	13	103309446	103309446	+	Missense_Mutation	SNP	C	C	T	rs140116320		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:103309446C>T	ENST00000376052.3	+	25	3048	c.3032C>T	c.(3031-3033)aCa>aTa	p.T1011I	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.T998I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	998					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTCCACCAACAAAGACTAAG	0.313000													16	111					0	0	0.00074312	0	0
KCTD8	386617	broad.mit.edu	37	4	44177124	44177124	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:44177124G>A	ENST00000360029.3	-	2	1388	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	369						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTCCTGGGGAGTGCTTGCC	0.483000										HNSCC(17;0.042)			10	69					0	0	0.000673444	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811443	5811443	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:5811443G>A	ENST00000381095.3	-	6	2493	c.1866C>T	c.(1864-1866)ccC>ccT	p.P622P	NLGN4X_ENST00000381093.2_Silent_p.P642P|NLGN4X_ENST00000381092.1_Silent_p.P622P|NLGN4X_ENST00000538097.1_Silent_p.P622P|NLGN4X_ENST00000275857.6_Silent_p.P622P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	622					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGCCATAGGGAAATGATG	0.488000													32	12					0	0	0.000680045	0	0
F5	2153	broad.mit.edu	37	1	169493087	169493087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:169493087C>T	ENST00000367796.3	-	20	6060	c.5859G>A	c.(5857-5859)tgG>tgA	p.W1953*	F5_ENST00000367797.3_Nonsense_Mutation_p.W1948*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1948	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTACACTCCAAGCATTAT	0.323000													58	116					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237921071	237921071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:237921071C>T	ENST00000366574.2	+	82	11637	c.11320C>T	c.(11320-11322)Cag>Tag	p.Q3774*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3758*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3780*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3774					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCACAGTACAGCAGGTAAC	0.333000													21	47					0	0	0.000295444	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634740	83634740	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:83634740C>T	ENST00000265362.3	-	11	1589	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	SEMA3A_ENST00000436949.1_Silent_p.T425T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	425	Sema.				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						AATTTACATCCGTTTTGATCA	0.368000													25	59					0	0	0.000147802	0	0
ABCC3	8714	broad.mit.edu	37	17	48750479	48750479	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:48750479G>A	ENST00000285238.8	+	18	2469	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	797	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATCGGGCCAGAAGGCGTGCT	0.577000													17	37					0	0	0.000132079	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401656	1401656	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:1401656G>A	ENST00000381524.3	+	3	246	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CSF2RA_ENST00000381500.1_Silent_p.L20L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Silent_p.L20L|CSF2RA_ENST00000355805.2_Silent_p.L20L|CSF2RA_ENST00000432318.2_Silent_p.L20L|CSF2RA_ENST00000361536.3_Silent_p.L20L|CSF2RA_ENST00000381509.3_Silent_p.L20L|CSF2RA_ENST00000417535.2_Silent_p.L20L|CSF2RA_ENST00000355432.3_Silent_p.L20L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	20						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATTCCTCCTGATCCCAGAGA	0.537000													92	173					0	0	0.000781405	0	0
MED16	10025	broad.mit.edu	37	19	884974	884974	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:884974A>T	ENST00000312090.6	-	6	1064	c.914T>A	c.(913-915)aTc>aAc	p.I305N	MED16_ENST00000395808.3_Missense_Mutation_p.I305N|MED16_ENST00000269814.4_Missense_Mutation_p.I305N|MED16_ENST00000325464.1_Missense_Mutation_p.I305N|MED16_ENST00000589119.1_Missense_Mutation_p.I305N|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	305					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTCCACGATGCTGCTGGT	0.687000													7	10					0	0	0.000274275	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587386	42587386	+	Silent	SNP	T	T	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:42587386T>C	ENST00000289957.2	+	5	1064	c.936T>C	c.(934-936)atT>atC	p.I312I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	312					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTCCATCATTGTTACCGTGT	0.438000													5	143					0	0	0.000602214	0	0
PRSS1	5644	broad.mit.edu	37	7	142459664	142459664	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:142459664C>T	ENST00000486171.1	+	4	299	c.282C>T	c.(280-282)gtC>gtT	p.V94V	PRSS1_ENST00000311737.7_Silent_p.V80V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	80	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACATCGAAGTCCTGGAGGGGA	0.542000													78	95					0	0	0.000781405	0	0
VIP	7432	broad.mit.edu	37	6	153076403	153076403	+	Splice_Site	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:153076403G>A	ENST00000367244.3	+	4	402		c.e4-1		VIP_ENST00000367243.3_Splice_Site	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide						body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CCTTGTTTTAGAAATGCCAGG	0.323000													24	27					0	0	0.000586117	0	0
OR2B11	127623	broad.mit.edu	37	1	247614472	247614472	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:247614472G>A	ENST00000318749.6	-	1	836	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCTCTTGGGAGTAGCTGG	0.493000													45	73					0	0	0.000781405	0	0
ADAM33	80332	broad.mit.edu	37	20	3655477	3655477	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:3655477C>T	ENST00000356518.2	-	5	594	c.353G>A	c.(352-354)gGg>gAg	p.G118E	ADAM33_ENST00000379861.4_Missense_Mutation_p.G118E|ADAM33_ENST00000350009.2_Missense_Mutation_p.G118E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	118					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCTTACTCGCCCTTGGTAGTG	0.637000													5	31					0	0	0.000602214	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485276	97485276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:97485276C>T	ENST00000376705.2	+	2	1264	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	414						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAAGATCTCTTCCAGCA	0.587000													22	70					0	0	0.000295444	0	0
RHBDL1	9028	broad.mit.edu	37	16	726311	726311	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:726311C>T	ENST00000219551.2	+	1	237	c.210C>T	c.(208-210)gcC>gcT	p.A70A	RHBDL1_ENST00000352681.3_Intron			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	70					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCACTCAGGCCTTGGCTGGCG	0.682000													5	7					0	0	0.000602214	0	0
LMTK3	114783	broad.mit.edu	37	19	49000720	49000720	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:49000720C>A	ENST00000600059.1	-	11	3833	c.3606G>T	c.(3604-3606)agG>agT	p.R1202S	LMTK3_ENST00000270238.3_Missense_Mutation_p.R1231S					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGGCCCTTCCTCTCGGGCT	0.701000													10	29					2.68362e-12	4.34723e-11	0.00010058	1	0
BRD1	23774	broad.mit.edu	37	22	50217902	50217902	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50217902C>A	ENST00000216267.8	-	1	550	c.64G>T	c.(64-66)Gtt>Ttt	p.V22F	BRD1_ENST00000404034.1_Missense_Mutation_p.V22F|BRD1_ENST00000457780.2_Missense_Mutation_p.V22F|BRD1_ENST00000404760.1_Missense_Mutation_p.V22F	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	22					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGTGTTTAACACTGCATGGG	0.463000													40	63					3.43241e-23	5.58492e-22	0.000437636	1	0
NUDT15	55270	broad.mit.edu	37	13	48611945	48611945	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:48611945C>T	ENST00000258662.2	+	1	243	c.63C>T	c.(61-63)acC>acT	p.T21T	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	21	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TCGTGGTGACCAGCTGCAAGC	0.677000											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	0.000151284	0	0
NOP14	8602	broad.mit.edu	37	4	2943972	2943972	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:2943972G>A	ENST00000416614.2	-	14	2063	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L	NOP14_ENST00000314262.6_Silent_p.L666L|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.L666L|NOP14_ENST00000502735.1_Silent_p.L666L			P78316	NOP14_HUMAN	NOP14 nucleolar protein	666					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCGCCCAGCGGAGGGAGAGGC	0.627000													19	30					0	0	0.000175454	0	0
CNTN6	27255	broad.mit.edu	37	3	1424823	1424823	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:1424823C>T	ENST00000446702.2	+	18	2991	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	CNTN6_ENST00000350110.2_Silent_p.S788S|CNTN6_ENST00000539053.1_Silent_p.S716S			Q9UQ52	CNTN6_HUMAN	contactin 6	788	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAGAAGGATCCCTGAGTACTG	0.428000													23	58					0	0	0.000720815	0	0
ANO2	57101	broad.mit.edu	37	12	6030385	6030385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:6030385G>A	ENST00000327087.8	-	3	414	c.343C>T	c.(343-345)Cct>Tct	p.P115S	ANO2_ENST00000546188.1_Missense_Mutation_p.P115S|ANO2_ENST00000356134.5_Missense_Mutation_p.P115S			Q9NQ90	ANO2_HUMAN	anoctamin 2	119						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAGTGGCCAGGGAAGCCTTGG	0.612000													7	9					0	0	0.000157383	0	0
PITRM1	10531	broad.mit.edu	37	10	3191935	3191935	+	Silent	SNP	G	G	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:3191935G>T	ENST00000380989.2	-	16	1787	c.1749C>A	c.(1747-1749)atC>atA	p.I583I	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.I551I|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Silent_p.I141I|PITRM1_ENST00000224949.4_Silent_p.I583I	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	551					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACTGAACAGGGATATCTCCAG	0.438000													17	73					5.03518e-11	8.12062e-10	0.000958276	1	0
DNAJC12	56521	broad.mit.edu	37	10	69565428	69565428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:69565428C>A	ENST00000225171.2	-	4	567	c.415G>T	c.(415-417)Gag>Tag	p.E139*	DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.E169*	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	139					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GAAGCCAGCTCCTCTTTCTTT	0.443000													84	112					1.68136e-41	2.74798e-40	0.000781405	1	0
CNGB3	54714	broad.mit.edu	37	8	87645038	87645038	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:87645038A>T	ENST00000320005.5	-	11	1309	c.1262T>A	c.(1261-1263)gTt>gAt	p.V421D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	421					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGTTGAAAAACAATTTCAAA	0.353000													18	26					0	0	0.00074312	0	0
RYR2	6262	broad.mit.edu	37	1	237921070	237921070	+	Silent	SNP	A	A	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:237921070A>G	ENST00000366574.2	+	82	11636	c.11319A>G	c.(11317-11319)gtA>gtG	p.V3773V	RYR2_ENST00000542537.1_Silent_p.V3757V|RYR2_ENST00000360064.6_Silent_p.V3779V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3773					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCCACAGTACAGCAGGTAA	0.338000													21	49					0	0	0.000295444	0	0
DNAH5	1767	broad.mit.edu	37	5	13762983	13762983	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13762983C>G	ENST00000265104.4	-	60	10233	c.10129G>C	c.(10129-10131)Gag>Cag	p.E3377Q	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3377	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCACCTCTTCATTGATT	0.368000									Kartagener syndrome				5	53					0	0	3.59834e-05	0	0
ESCO2	157570	broad.mit.edu	37	8	27634168	27634168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:27634168G>A	ENST00000305188.8	+	3	581	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	115					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACTAATGATGAAGATAAATC	0.353000									SC Phocomelia syndrome				13	25					0	0	0.00010058	0	0
PPARA	5465	broad.mit.edu	37	22	46628007	46628007	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:46628007C>T	ENST00000396000.2	+	7	1295	c.1030C>T	c.(1030-1032)Cta>Tta	p.L344L	PPARA_ENST00000407236.1_Silent_p.L344L|PPARA_ENST00000402126.1_Silent_p.L344L|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.L344L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	344	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCGTGAATTCCTAAAAAGCCT	0.428000													31	74					0	0	0.000279167	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814964	54814964	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:54814964C>T	ENST00000585477.1	+	1	672	c.421C>T	c.(421-423)Cat>Tat	p.H141Y		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		ACAAATAATTCATGAATTCCT	0.512000													7	8					0	0	8.12818e-05	0	0
IRX4	50805	broad.mit.edu	37	5	1879826	1879826	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:1879826G>A	ENST00000505790.1	-	5	984	c.528C>T	c.(526-528)atC>atT	p.I176I	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Silent_p.I176I|IRX4_ENST00000513692.1_Silent_p.I176I	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGGCCAGCATGATCTTCTCGC	0.642000													19	49					0	0	0.000132079	0	0
SPATA19	219938	broad.mit.edu	37	11	133714222	133714222	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:133714222T>G	ENST00000299140.3	-	4	332	c.278A>C	c.(277-279)cAc>cCc	p.H93P	SPATA19_ENST00000532889.1_Missense_Mutation_p.H93P	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	93					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTAGAGAGGTGGTGCTTCAC	0.557000													6	56					0	0	3.59834e-05	0	0
SDCBP	6386	broad.mit.edu	37	8	59492257	59492257	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59492257A>G	ENST00000523483.1	+	8	2228	c.714A>G	c.(712-714)atA>atG	p.I238M	SDCBP_ENST00000447267.2_Missense_Mutation_p.I164M|SDCBP_ENST00000413219.2_Missense_Mutation_p.I218M|SDCBP_ENST00000260130.4_Missense_Mutation_p.I218M|SDCBP_ENST00000422546.2_Missense_Mutation_p.I217M|SDCBP_ENST00000424270.2_Missense_Mutation_p.I212M|SDCBP_ENST00000520168.1_Missense_Mutation_p.I159M|SDCBP_ENST00000447182.2_Missense_Mutation_p.I217M			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	218	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGAAAAATAACATCCATAG	0.368000													27	54					0	0	0.000586117	0	0
FAM214A	56204	broad.mit.edu	37	15	52901928	52901928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:52901928G>A	ENST00000261844.7	-	6	1335	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FAM214A_ENST00000546305.2_Missense_Mutation_p.P402S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	395																	GTATTAAATGGACGTCCAGAA	0.388000													21	64					0	0	0.000375601	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	45					0	0	0.00074312	0	0
ANK1	286	broad.mit.edu	37	8	41571691	41571691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:41571691G>A	ENST00000396942.1	-	16	1866	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	ANK1_ENST00000289734.7_Missense_Mutation_p.P595S|ANK1_ENST00000379758.2_Missense_Mutation_p.P595S|ANK1_ENST00000347528.4_Missense_Mutation_p.P595S|ANK1_ENST00000396945.1_Missense_Mutation_p.P595S|ANK1_ENST00000352337.4_Missense_Mutation_p.P595S|ANK1_ENST00000265709.8_Missense_Mutation_p.P628S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	595	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCTGTGCGGGGAGCCGCCC	0.662000													13	19					0	0	0.000308642	0	0
NPY4R	5540	broad.mit.edu	37	10	47087185	47087185	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:47087185C>T	ENST00000374312.1	+	3	821	c.402C>T	c.(400-402)ctC>ctT	p.L134L	NPY4R_ENST00000395716.1_Silent_p.L134L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CGCTCGTCCTCGTGGCCCTGG	0.567000													22	139					0	0	0.000147802	0	0
IL17REL	400935	broad.mit.edu	37	22	50439249	50439249	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50439249G>A	ENST00000389983.2	-	5	417	c.153C>T	c.(151-153)acC>acT	p.T51T	IL17REL_ENST00000341280.5_Silent_p.T51T	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	51										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCTCCTGGGTGTCCAGGC	0.721000													12	5					0	0	0.000151284	0	0
CIR1	9541	broad.mit.edu	37	2	175245530	175245530	+	Splice_Site	SNP	A	A	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:175245530A>G	ENST00000342016.3	-	4	345		c.e4+1		CIR1_ENST00000362053.5_Splice_Site	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1						mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ATAGTACTTTACCTCTTTGTT	0.244000													14	38					0	0	0.00074312	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384717	133384717	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:133384717T>C	ENST00000204726.3	-	5	1496	c.938A>G	c.(937-939)aAt>aGt	p.N313S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.N313S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N313S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.N313S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.N313S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	313					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCTGTCATTTCCATCCAC	0.602000													20	45					0	0	0.000132079	0	0
DSG1	1828	broad.mit.edu	37	18	28906914	28906914	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:28906914C>T	ENST00000257192.4	+	3	374	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	54	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.F54F(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGATCAAGTTCGCAGCAGCCT	0.393000													33	33					0	0	0.00058488	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231602	125231602	+	RNA	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:125231602C>T	ENST00000439075.1	-	0	3143					NR_026876.1																						TTCATTAATCCTTAAGTACTT	0.259000													4	5					0	0	0.00024832	0	0
RGS3	5998	broad.mit.edu	37	9	116356360	116356360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:116356360C>T	ENST00000462403.1	+	1	595	c.161C>T	c.(160-162)tCc>tTc	p.S54F	RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCCATTTCCTGGCTCCTC	0.607000													37	39					0	0	0.000509022	0	0
ZFP42	132625	broad.mit.edu	37	4	188924849	188924849	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:188924849C>T	ENST00000326866.4	+	4	1296	c.888C>T	c.(886-888)atC>atT	p.I296I	ZFP42_ENST00000509524.1_Silent_p.I296I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	296					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGCCCACATCCTAACGCATG	0.468000													4	52					0	0	0.00024832	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385511	50385511	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:50385511G>A	ENST00000221543.5	+	7	951	c.652G>A	c.(652-654)Gat>Aat	p.D218N	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D185N	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	218						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTTCCTCCAGGATCCCTACTC	0.682000													8	56					0	0	0.000274275	0	0
SPTB	6710	broad.mit.edu	37	14	65220430	65220430	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:65220430C>T	ENST00000389722.3	-	32	6480	c.6427G>A	c.(6427-6429)Ggg>Agg	p.G2143R	SPTB_ENST00000556626.1_Missense_Mutation_p.G2143R|SPTB_ENST00000342835.4_5'UTR	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTCATCCCCAGTGGATTTC	0.647000													23	45					0	0	0.000720815	0	0
API5	8539	broad.mit.edu	37	11	43345121	43345121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:43345121C>T	ENST00000378852.3	+	6	810	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	API5_ENST00000534600.1_Missense_Mutation_p.P229S|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.P229S|API5_ENST00000455725.2_Missense_Mutation_p.P218S|API5_ENST00000420461.2_Missense_Mutation_p.P175S	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	229					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GACCTTCAATCCCTCGGATCC	0.493000													47	105					0	0	0.000781405	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187978	140187978	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140187978G>A	ENST00000530339.1	+	1	1206	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.K402K|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.K402K|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCAAGAATTACTACT	0.607000													6	120					0	0	8.12818e-05	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740075	140740075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140740075G>A	ENST00000522605.1	+	1	373	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGTGCAGGATATAAATGA	0.403000													15	34					0	0	0.000308642	0	0
NUDT15	55270	broad.mit.edu	37	13	48611944	48611944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:48611944C>T	ENST00000258662.2	+	1	242	c.62C>T	c.(61-63)aCc>aTc	p.T21I	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	21	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GTCGTGGTGACCAGCTGCAAG	0.672000											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.00010058	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420352	110420352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:110420352G>T	ENST00000378402.5	+	18	1992	c.1888G>T	c.(1888-1890)Gga>Tga	p.G630*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	630					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAACCAAAGGAAAACCCAA	0.403000										HNSCC(38;0.096)			18	42					1.33834e-09	2.14897e-08	0.000958276	1	0
C6	729	broad.mit.edu	37	5	41161815	41161815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:41161815G>A	ENST00000263413.3	-	10	1702	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	C6_ENST00000337836.5_Missense_Mutation_p.P480S|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	480	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCACAGCAGGATTTTCCTTC	0.408000													10	62					0	0	0.000673444	0	0
EFHC1	114327	broad.mit.edu	37	6	52344502	52344502	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:52344502C>T	ENST00000371068.5	+	9	1660	c.1557C>T	c.(1555-1557)aaC>aaT	p.N519N	EFHC1_ENST00000538167.1_Silent_p.N500N|EFHC1_ENST00000433625.2_Silent_p.N428N	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	519	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGGAGAGCAACGCTGCCCAGT	0.478000													23	44					0	0	0.00047179	0	0
STAB2	55576	broad.mit.edu	37	12	104054484	104054484	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:104054484C>T	ENST00000388887.2	+	17	2016	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	604	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCTCATCTCCACCCCTCACA	0.488000													33	60					0	0	0.000814825	0	0
TEX2	55852	broad.mit.edu	37	17	62226432	62226432	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:62226432T>G	ENST00000258991.3	-	12	3386	c.3302A>C	c.(3301-3303)aAc>aCc	p.N1101T	TEX2_ENST00000583097.1_Missense_Mutation_p.N1094T|TEX2_ENST00000584379.1_Missense_Mutation_p.N1094T			Q8IWB9	TEX2_HUMAN	testis expressed 2	1094					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATCATCCATGTTTGGCATGAC	0.453000													20	18					0	0	0.000295444	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120970	119120970	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:119120970G>A	ENST00000264245.4	+	10	1903	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.S457S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTACACTTCGAACGACAGCC	0.592000													24	28					0	0	0.000184323	0	0
KDM4D	55693	broad.mit.edu	37	11	94731342	94731342	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:94731342G>A	ENST00000335080.5	+	3	1638	c.806G>A	c.(805-807)gGa>gAa	p.G269E	KDM4D_ENST00000536741.1_Missense_Mutation_p.G269E	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	269	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGAGGCTGGAGAGTTCATG	0.537000													34	74					0	0	0.000692331	0	0
PGM3	5238	broad.mit.edu	37	6	83892634	83892634	+	Missense_Mutation	SNP	C	C	T	rs73749732	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:83892634C>T	ENST00000513973.1	-	5	637	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PGM3_ENST00000512866.1_Missense_Mutation_p.R174Q|PGM3_ENST00000506587.1_Missense_Mutation_p.R202Q|PGM3_ENST00000283977.4_Missense_Mutation_p.R93Q	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	174					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTTTCCATATCGGCCACCCGT	0.403000													26	63					0	0	0.000279167	0	0
FAT4	79633	broad.mit.edu	37	4	126412767	126412767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:126412767G>A	ENST00000394329.3	+	17	14803	c.14790G>A	c.(14788-14790)tgG>tgA	p.W4930*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.W3171*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4930					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						CTTTCAACTGGGACAACCTTT	0.532000													13	38					0	0	0.000308642	0	0
ZNF285	26974	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44892134G>A	ENST00000330997.4	-	4	337	c.273C>T	c.(271-273)atC>atT	p.I91I	ZNF285_ENST00000591679.1_Silent_p.I98I|ZNF285_ENST00000544719.2_Silent_p.I91I|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGGTTCACGATATAATCCT	0.418000													18	56					0	0	0.00074312	0	0
SIRPG	55423	broad.mit.edu	37	20	1629866	1629866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:1629866C>T	ENST00000381580.1	-	2	342	c.163G>A	c.(163-165)Gta>Ata	p.V55I	SIRPG_ENST00000381583.2_Missense_Mutation_p.V88I|SIRPG_ENST00000216927.4_Missense_Mutation_p.V88I|SIRPG_ENST00000344103.4_Missense_Mutation_p.V88I|SIRPG_ENST00000303415.3_Missense_Mutation_p.V88I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	88	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACTGTTGTTACCCTGGGGAAG	0.507000													6	147					0	0	3.59834e-05	0	0
SCRIB	23513	broad.mit.edu	37	8	144885625	144885625	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144885625G>A	ENST00000356994.2	-	24	3537	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	SCRIB_ENST00000320476.3_Silent_p.L1177L|SCRIB_ENST00000377533.3_Silent_p.L1096L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1177	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCACACTGCGGAGCAGCTGCA	0.711000													4	8					0	0	3.59834e-05	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301997	27301997	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:27301997C>T	ENST00000376087.4	-	32	4932	c.4767G>A	c.(4765-4767)gtG>gtA	p.V1589V	ANKRD26_ENST00000436985.2_Silent_p.V1605V|ANKRD26_ENST00000376070.3_Silent_p.V1146V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1588						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTGTTTTTCCACAAGAAGTT	0.408000													7	18					0	0	0.000442599	0	0
ZNF720	124411	broad.mit.edu	37	16	31734610	31734610	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:31734610C>T	ENST00000316491.9	+	3	361	c.162C>T	c.(160-162)acC>acT	p.T54T	ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000534369.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	54	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						ACCTGATCACCTTTTTGGAGC	0.478000													3	11					0	0	6.4e-05	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:105924152G>A	ENST00000393359.2	-	2	1033	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P203S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCAGTAGGGAAACAGGTCC	0.607000													8	112					0	0	0.000157383	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373699	86373699	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:86373699G>A	ENST00000604798.1	-	8	2009	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	MGAT4C_ENST00000552808.2_Missense_Mutation_p.L269F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L269F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L298F|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L269F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L269F			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	269					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAACGTGGGAGATCATGAGAA	0.388000													18	34					0	0	0.000958276	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883076	228883076	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:228883076C>T	ENST00000392056.3	-	7	2540	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E832K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	832						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATATATTTCCTTGGAGGAT	0.488000													11	71					0	0	6.40141e-05	0	0
TPP2	7174	broad.mit.edu	37	13	103309445	103309445	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:103309445A>T	ENST00000376052.3	+	25	3047	c.3031A>T	c.(3031-3033)Aca>Tca	p.T1011S	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.T998S			P29144	TPP2_HUMAN	tripeptidyl peptidase II	998					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCTCCACCAACAAAGACTAA	0.308000													16	110					0	0	0.00074312	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798879	44798879	+	Splice_Site	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:44798879G>A	ENST00000309315.4	+	7	936		c.e7-1		ZMIZ2_ENST00000441627.1_Splice_Site|ZMIZ2_ENST00000433667.1_Splice_Site|ZMIZ2_ENST00000413916.1_Splice_Site|ZMIZ2_ENST00000265346.7_Splice_Site	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCTTTTTCAGGTGTATCCAG	0.597000													44	130					0	0	0.000781405	0	0
KNDC1	85442	broad.mit.edu	37	10	135025254	135025254	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:135025254G>A	ENST00000304613.3	+	23	4149	c.4128G>A	c.(4126-4128)gaG>gaA	p.E1376E	KNDC1_ENST00000368572.2_Silent_p.E1378E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1376					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCGGGCCGAGGGCAACCCTC	0.667000													7	26					0	0	0.000157383	0	0
GPR161	23432	broad.mit.edu	37	1	168065750	168065750	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:168065750G>A	ENST00000367838.1	-	5	1408	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GPR161_ENST00000367835.1_Silent_p.I365I|GPR161_ENST00000537209.1_Silent_p.I385I|GPR161_ENST00000271357.5_Silent_p.I365I|GPR161_ENST00000546300.1_Silent_p.I251I|GPR161_ENST00000539777.1_Silent_p.I287I|GPR161_ENST00000361697.2_Silent_p.I365I|GPR161_ENST00000367836.1_Silent_p.I233I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	365					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGTTACCTGTGATCCTGTTGG	0.522000													13	29					0	0	0.000308642	0	0
OR1S2	219958	broad.mit.edu	37	11	57970832	57970832	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:57970832G>A	ENST00000302592.6	-	1	821	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGGAGGAGGGGAAAAAGTACA	0.483000													22	53					0	0	0.00047179	0	0
BOLL	66037	broad.mit.edu	37	2	198640397	198640397	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:198640397C>T	ENST00000321801.7	-	5	950	c.380G>A	c.(379-381)gGg>gAg	p.G127E	BOLL_ENST00000430004.1_Missense_Mutation_p.G115E|BOLL_ENST00000392296.4_Missense_Mutation_p.G115E|BOLL_ENST00000433157.1_Missense_Mutation_p.G115E|BOLL_ENST00000282278.8_Intron	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	115					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGAGGGATCCCTACTTGTTG	0.244000													9	97					0	0	0.00010058	0	0
PCDH18	54510	broad.mit.edu	37	4	138452867	138452867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:138452867C>T	ENST00000344876.4	-	1	762	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E126K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	126	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTTCAACTTCAATA	0.433000													19	49					0	0	0.000958276	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880133	30880133	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:30880133C>T	ENST00000259895.4	+	11	1210	c.987C>T	c.(985-987)gcC>gcT	p.A329A	GTF2H4_ENST00000376316.2_Silent_p.A329A	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	329					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCCTCATTGCCCTCTTCTCTG	0.592000								Nucleotide excision repair (NER)					21	50					0	0	0.000375601	0	0
CNGA1	1259	broad.mit.edu	37	4	47938833	47938833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:47938833G>A	ENST00000402813.3	-	10	2027	c.1885C>T	c.(1885-1887)Cga>Tga	p.R629*	CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R560*|CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R560*|CNGA1_ENST00000514170.1_Nonsense_Mutation_p.R560*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R560*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	560					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GCCGTTCTTCGATTGCCAGCT	0.453000													27	88					0	0	0.000878237	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359091	64359091	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:64359091G>A	ENST00000377574.1	+	1	810	c.63G>A	c.(61-63)acG>acA	p.T21T	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377567.2_Silent_p.T21T|SLC22A12_ENST00000336464.7_Silent_p.T21T|SLC22A12_ENST00000377572.1_Silent_p.T21T	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	21					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTCTCCAGACGATGGCTCTGA	0.622000													26	65					0	0	0.000339439	0	0
TRPS1	7227	broad.mit.edu	37	8	116426948	116426948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:116426948C>T	ENST00000395715.3	-	7	3765	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	TRPS1_ENST00000220888.5_Missense_Mutation_p.G1050E|TRPS1_ENST00000519076.1_Missense_Mutation_p.G804E|TRPS1_ENST00000520276.1_Missense_Mutation_p.G1054E	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1050	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAACTATTTCCTGGATCTCC	0.443000									Langer-Giedion syndrome				14	120					0	0	0.000566183	0	0
CCDC67	159989	broad.mit.edu	37	11	93103239	93103239	+	Splice_Site	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:93103239G>A	ENST00000298050.3	+	6	533	c.432_splice	c.e6-1	p.E145_splice		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	145										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTTTAAAAGGAATTTAGAGC	0.299000													14	8					0	0	0.000308642	0	0
BDKRB2	624	broad.mit.edu	37	14	96707538	96707538	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:96707538C>T	ENST00000542454.2	+	3	3880	c.792C>T	c.(790-792)ttC>ttT	p.F264F	BDKRB2_ENST00000306005.3_Silent_p.F291F|BDKRB2_ENST00000554311.1_Silent_p.F291F|BDKRB2_ENST00000539359.1_Silent_p.F264F|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	291					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCAGCACCTTCCTGGATACGC	0.562000													10	27					0	0	0.000442599	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367820	145367820	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145367820C>T	ENST00000342960.5	+	83	10451	c.10416C>T	c.(10414-10416)ccC>ccT	p.P3472P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3472										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)		CACCATGCCCCAGGTGACTTT	0.438000													11	56					0	0	6.40141e-05	0	0
CSMD3	114788	broad.mit.edu	37	8	113332163	113332163	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:113332163C>T	ENST00000297405.5	-	46	7457	c.7213G>A	c.(7213-7215)Gaa>Aaa	p.E2405K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E2365K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2301K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2335K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2405	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAAAATTTCAGCATTGGGC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	63					0	0	0.000491102	0	0
MECOM	2122	broad.mit.edu	37	3	168825738	168825738	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:168825738G>A	ENST00000264674.3	-	10	2349	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	MECOM_ENST00000464456.1_Intron|MECOM_ENST00000460814.1_Intron|MECOM_ENST00000494292.1_Intron|MECOM_ENST00000472280.1_Silent_p.F673F|MECOM_ENST00000433243.2_Silent_p.F673F|MECOM_ENST00000392736.3_Silent_p.F672F|MECOM_ENST00000468789.1_Silent_p.F672F	NM_001105077.3	NP_001098547.3	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGGCAGTTGGAACTGGGAGC	0.308000													11	64					0	0	0.000308642	0	0
UBR4	23352	broad.mit.edu	37	1	19433196	19433196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:19433196G>A	ENST00000375267.2	-	83	12263	c.12260C>T	c.(12259-12261)cCc>cTc	p.P4087L	UBR4_ENST00000375217.2_Missense_Mutation_p.P4080L|UBR4_ENST00000375226.2_Missense_Mutation_p.P4063L|UBR4_ENST00000375254.3_Missense_Mutation_p.P4087L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4087					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGATTTGCTGGGGGCTTTCCC	0.547000													41	74					0	0	0.000374591	0	0
LRP2	4036	broad.mit.edu	37	2	170034386	170034386	+	Silent	SNP	A	A	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:170034386A>G	ENST00000263816.3	-	53	10605	c.10320T>C	c.(10318-10320)aaT>aaC	p.N3440N	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3440					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTCTGTCTATTTGATCCAT	0.423000													19	204					0	0	0.000295444	0	0
OR8D1	283159	broad.mit.edu	37	11	124180013	124180013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:124180013G>A	ENST00000357821.2	-	1	720	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAAGGCATAGGAGACAGCAAC	0.512000													10	20					0	0	0.000673444	0	0
TAF4	6874	broad.mit.edu	37	20	60574057	60574057	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:60574057G>A	ENST00000252996.3	-	12	2894	c.2895C>T	c.(2893-2895)atC>atT	p.I965I		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	965					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCCTCATCAGGATCTCCCGCT	0.557000													71	196					0	0	0.000781405	0	0
AHRR	57491	broad.mit.edu	37	5	434549	434549	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:434549C>T	ENST00000316418.5	+	12	1804	c.1760C>T	c.(1759-1761)aCc>aTc	p.T587I	AHRR_ENST00000506456.1_Missense_Mutation_p.T425I|AHRR_ENST00000512529.1_Missense_Mutation_p.T415I|AHRR_ENST00000505113.1_Missense_Mutation_p.T569I	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	569	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CACCCAGCCACCTTCCCTACC	0.642000													11	12					0	0	0.00010058	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301996	27301996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:27301996C>T	ENST00000376087.4	-	32	4933	c.4768G>A	c.(4768-4770)Gaa>Aaa	p.E1590K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1606K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1147K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1589						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTGTTTTTCCACAAGAAGT	0.413000													7	18					0	0	0.000442599	0	0
GPR141	353345	broad.mit.edu	37	7	37780304	37780304	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:37780304C>T	ENST00000447769.1	+	4	598	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.F103F			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	103						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACGTTCCTATTCTATG	0.468000													28	88					0	0	0.000720815	0	0
GLRA3	8001	broad.mit.edu	37	4	175710078	175710078	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:175710078C>T	ENST00000274093.3	-	2	590	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GLRA3_ENST00000340217.5_Missense_Mutation_p.E30K	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	30					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGTCTGTTTCCTTTGTGGCA	0.338000													13	26					0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9087881	9087881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:9087881C>T	ENST00000397910.4	-	1	4137	c.3934G>A	c.(3934-3936)Gag>Aag	p.E1312K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1312	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTTAGTCTCTCCAGGAGCT	0.512000													11	41					0	0	6.40141e-05	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591993	167591993	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:167591993C>T	ENST00000366832.2	+	5	751	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	207										endometrium(1)|kidney(2)|lung(3)	6						AGGCCGACTCCCGGTGCAGAA	0.522000													17	76					0	0	0.000295444	0	0
DNAH7	56171	broad.mit.edu	37	2	196642563	196642563	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:196642563G>A	ENST00000312428.6	-	59	11125	c.11025C>T	c.(11023-11025)ttC>ttT	p.F3675F	DNAH7_ENST00000409063.1_Silent_p.F158F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3675					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACTTGAGTCGAACTTATAGT	0.418000													14	29					0	0	0.000308642	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633654	70633654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:70633654C>T	ENST00000381269.2	-	2	2239	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E496K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E496K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E496K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E496K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	496					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGCATCCCCTCCTCTGGCTGC	0.517000													23	55					0	0	0.000295444	0	0
API5	8539	broad.mit.edu	37	11	43345122	43345122	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:43345122C>T	ENST00000378852.3	+	6	811	c.686C>T	c.(685-687)cCc>cTc	p.P229L	API5_ENST00000534600.1_Missense_Mutation_p.P229L|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.P229L|API5_ENST00000455725.2_Missense_Mutation_p.P218L|API5_ENST00000420461.2_Missense_Mutation_p.P175L	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	229					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACCTTCAATCCCTCGGATCCT	0.488000													46	104					0	0	0.000781405	0	0
XDH	7498	broad.mit.edu	37	2	31600037	31600037	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:31600037C>T	ENST00000379416.3	-	14	1357	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	437					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACTCTCATGCCACTGGTTACC	0.512000													9	66					0	0	0.000442599	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409663	59409663	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59409663A>C	ENST00000301645.3	-	3	545	c.408T>G	c.(406-408)caT>caG	p.H136Q		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	136					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATTCAAGGCATGGCCCTGCA	0.473000									Neonatal Giant Cell Hepatitis				34	66					0	0	0.00058488	0	0
SI	6476	broad.mit.edu	37	3	164786967	164786967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:164786967C>T	ENST00000264382.3	-	4	334	c.272G>A	c.(271-273)aGa>aAa	p.R91K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	91	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R91T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGCAGCCTCTCTGTGCACA	0.358000										HNSCC(35;0.089)			4	22					0	0	3.59834e-05	0	0
IPO9	55705	broad.mit.edu	37	1	201839883	201839883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:201839883C>T	ENST00000361565.4	+	18	2375	c.2306C>T	c.(2305-2307)aCc>aTc	p.T769I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	769					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTGTTTCCACCCTCATCTCC	0.582000													10	58					0	0	0.000673444	0	0
CNTN4	152330	broad.mit.edu	37	3	2967415	2967415	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:2967415C>T	ENST00000397461.1	+	12	1694	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.P218L|CNTN4_ENST00000448906.2_Missense_Mutation_p.P109L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P437L|CNTN4_ENST00000397459.2_Missense_Mutation_p.P109L|CNTN4_ENST00000427331.1_Missense_Mutation_p.P437L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	437	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTCCAAAACCTGTTTACACC	0.358000													38	92					0	0	0.000953801	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434818	1434818	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:1434818C>T	ENST00000233078.4	+	12	1292	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	377	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCCCTCCGTGCCAGGGT	0.692000													7	12					0	0	8.12818e-05	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385510	50385510	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:50385510G>A	ENST00000221543.5	+	7	950	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TBC1D17_ENST00000535102.2_Silent_p.Q184Q	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	217						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCTTCCTCCAGGATCCCTACT	0.682000													8	56					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179611552	179611552	+	Missense_Mutation	SNP	C	C	T	rs62179016	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:179611552C>T	ENST00000360870.5	-	46	15797	c.15575G>A	c.(15574-15576)aGg>aAg	p.R5192K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8711	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATACCTTCCTTTTGGTCAG	0.388000													9	64					0	0	0.000442599	0	0
POM121	9883	broad.mit.edu	37	7	72409898	72409898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:72409898C>T	ENST00000395270.1	+	10	1637	c.596C>T	c.(595-597)tCc>tTc	p.S199F	POM121_ENST00000358357.3_Missense_Mutation_p.S199F|POM121_ENST00000434423.2_Missense_Mutation_p.S464F|POM121_ENST00000257622.4_Missense_Mutation_p.S199F|POM121_ENST00000446813.1_Missense_Mutation_p.S199F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	464	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGTCATCATTCCAGTTCTTCA	0.478000													5	77					0	0	8.12818e-05	0	0
HSF5	124535	broad.mit.edu	37	17	56540534	56540534	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:56540534G>A	ENST00000323777.3	-	4	1260	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	384						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTAGGGGAGGAATGCAACTC	0.423000													42	58					0	0	0.000781405	0	0
OR2D3	120775	broad.mit.edu	37	11	6943038	6943038	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6943038G>A	ENST00000317834.3	+	1	834	c.806G>A	c.(805-807)gGg>gAg	p.G269E		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTCTATGGGTCAGGAATA	0.428000													19	39					0	0	0.000958276	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	C	T	rs144099662	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168726189C>T	ENST00000305861.1	+	2	991	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	B3GALT1_ENST00000392690.2_Missense_Mutation_p.R214W|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000													14	43					0	0	0.000308642	0	0
NEB	4703	broad.mit.edu	37	2	152466398	152466398	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:152466398G>A	ENST00000427231.2	-	81	12457	c.12255C>T	c.(12253-12255)taC>taT	p.Y4085Y	NEB_ENST00000603639.1_Silent_p.Y4085Y|NEB_ENST00000409198.1_Silent_p.Y3842Y|NEB_ENST00000172853.10_Silent_p.Y3842Y|NEB_ENST00000604864.1_Silent_p.Y4085Y|NEB_ENST00000397345.3_Silent_p.Y4085Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4084					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTCATGCAGGTAATTGCGAT	0.423000													10	115					0	0	0.000442599	0	0
ZNF259	8882	broad.mit.edu	37	11	116649712	116649712	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:116649712G>T	ENST00000227322.3	-	14	1368	c.1309C>A	c.(1309-1311)Caa>Aaa	p.Q437K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	437					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCCTCATTTTGGTCAAAGGTG	0.557000													8	373					0.000274275	0.00436574	0.000274275	1	0
SGCZ	137868	broad.mit.edu	37	8	13959999	13959999	+	Silent	SNP	T	T	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:13959999T>G	ENST00000382080.1	-	7	1345	c.630A>C	c.(628-630)tcA>tcC	p.S210S	SGCZ_ENST00000421524.2_Silent_p.S163S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	197					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATCTGGTGGGTGATTCAAGCC	0.403000													9	24					0	0	0.000274275	0	0
NLRP12	91662	broad.mit.edu	37	19	54318189	54318189	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54318189C>T	ENST00000324134.6	-	2	511	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	NLRP12_ENST00000535162.1_Missense_Mutation_p.E115K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E115K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E115K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E115K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E115K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E115K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E115K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	115					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAGAGACTTCCAGAAGGCAT	0.517000													48	68					0	0	0.000781405	0	0
OSM	5008	broad.mit.edu	37	22	30662782	30662782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:30662782C>T	ENST00000215781.2	-	1	47	c.7G>A	c.(7-9)Gta>Ata	p.V3I	OSM_ENST00000403463.1_Missense_Mutation_p.V3I	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	3					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GTGAGCAGTACCCCCATGCTG	0.701000													15	21					0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:21236264G>A	ENST00000233242.1	-	25	4111	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468000													137	274					0	0	0.000781405	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	48					0	0	0.00024832	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:110919263G>A	ENST00000316534.4	-	10	1112	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R291*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R290*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R346*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R228*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000													12	32					0	0	0.000219431	0	0
SNCAIP	9627	broad.mit.edu	37	5	121776381	121776381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:121776381G>A	ENST00000261367.7	+	9	2923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	SNCAIP_ENST00000542191.1_Missense_Mutation_p.E10K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E54K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E499K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E86K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E392K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E452K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E499K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	452					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCGTTGGATGAAGTAGACCA	0.448000													42	87					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				54	34					0	0	0.000781405	0	0
SCN9A	6335	broad.mit.edu	37	2	167138295	167138295	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:167138295C>T	ENST00000375387.4	-	13	2341	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	SCN9A_ENST00000409435.1_Silent_p.K666K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.K667K|SCN9A_ENST00000409672.1_Silent_p.K655K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	666						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACGCCTTTTCTTGTGTATTT	0.343000													5	86					0	0	3.59834e-05	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256848	140256848	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140256848G>A	ENST00000398631.2	+	1	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGACGCTGACT	0.682000													27	50					0	0	0.000878237	0	0
SLX4	84464	broad.mit.edu	37	16	3641157	3641157	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:3641157C>T	ENST00000294008.3	-	12	3122	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	828	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCGCTTCCTCCTCTTCATCT	0.458000								Direct reversal of damage					63	98					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13776655	13776655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13776655G>A	ENST00000265104.4	-	55	9370	c.9266C>T	c.(9265-9267)tCg>tTg	p.S3089L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3089	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3089L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCACTGGCGAGAAGCAGAG	0.478000									Kartagener syndrome				26	49					0	0	0.000720815	0	0
ERBB4	2066	broad.mit.edu	37	2	212495195	212495195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:212495195C>T	ENST00000342788.4	-	17	2381	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	ERBB4_ENST00000402597.1_Missense_Mutation_p.E681K|ERBB4_ENST00000436443.1_Missense_Mutation_p.E691K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	691					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCTCTGTTTCCAAGAATCTT	0.368000										TSP Lung(8;0.080)			55	99					0	0	0.000781405	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139644	5139644	+	Nonsense_Mutation	SNP	C	C	T	rs118150330	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:5139644C>T	ENST00000380554.3	+	3	923	c.271C>T	c.(271-273)Cga>Tga	p.R91*	AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R68*|AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	91					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CACTTTTCATCGACCAGAGTT	0.393000													37	51					0	0	0.000270559	0	0
NCOR2	9612	broad.mit.edu	37	12	124831179	124831179	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:124831179G>A	ENST00000356219.3	-	32	4466	c.4311C>T	c.(4309-4311)cgC>cgT	p.R1437R	NCOR2_ENST00000404121.2_Silent_p.R991R|NCOR2_ENST00000429285.2_Silent_p.R1420R|NCOR2_ENST00000404621.1_Silent_p.R1420R|NCOR2_ENST00000397355.1_Silent_p.R1421R|NCOR2_ENST00000405201.1_Silent_p.R1430R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1438					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCTCCTCGCGCGGGATCT	0.726000													6	15					0	0	3.59834e-05	0	0
LILRA5	353514	broad.mit.edu	37	19	54818745	54818745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54818745G>A	ENST00000301219.3	-	7	972	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	LILRA5_ENST00000346508.3_Nonsense_Mutation_p.Q273*	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	285					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCAATCCTGAAATATCAGA	0.532000													30	51					0	0	0.000279167	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051061	110051061	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:110051061G>A	ENST00000369864.4	-	2	823	c.474C>T	c.(472-474)gcC>gcT	p.A158A	AMIGO1_ENST00000369862.1_Silent_p.A158A			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	158					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTGCAGCTGGGCCATGTCAT	0.542000													33	60					0	0	0.000409698	0	0
CORO7	79585	broad.mit.edu	37	16	4408077	4408077	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:4408077G>A	ENST00000251166.4	-	25	2630	c.2485C>T	c.(2485-2487)Cca>Tca	p.P829S	CORO7_ENST00000537233.2_Missense_Mutation_p.P811S|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P829S|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.P609S|CORO7_ENST00000574025.1_Missense_Mutation_p.P744S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCCGTGTCTGGGAACACGTCA	0.612000													12	35					0	0	0.000151284	0	0
CACNA1A	773	broad.mit.edu	37	19	13397387	13397387	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:13397387C>T	ENST00000360228.5	-	20	3482	c.3483G>A	c.(3481-3483)agG>agA	p.R1161R	CACNA1A_ENST00000573710.2_Silent_p.R1162R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1162					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTCGGGTTTCCTGGCAGTCT	0.627000													16	20					0	0	0.000566183	0	0
BRINP3	339479	broad.mit.edu	37	1	190068163	190068163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:190068163G>A	ENST00000367462.3	-	8	1517	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P327L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		429						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTGGTCATTCGGACACGTGCA	0.597000													13	20					0	0	0.000151284	0	0
LYST	1130	broad.mit.edu	37	1	235922514	235922514	+	Silent	SNP	T	T	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:235922514T>G	ENST00000389794.3	-	23	6813	c.6639A>C	c.(6637-6639)tcA>tcC	p.S2213S	LYST_ENST00000389793.2_Silent_p.S2213S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2213					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			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)			TGTCATCTTCTGACCTGGGTT	0.542000													27	78					0	0	0.00058488	0	0
PSG3	5671	broad.mit.edu	37	19	43243130	43243130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:43243130G>A	ENST00000327495.5	-	2	360	c.176C>T	c.(175-177)cCc>cTc	p.P59L	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.P59L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AAGATTCTGGGGCAAATTGTG	0.443000													65	154					0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618595	77618595	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:77618595C>T	ENST00000521891.2	+	2	2720	c.2272C>T	c.(2272-2274)Ccg>Tcg	p.P758S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P758S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P758S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P758S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	758						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACCCTCTCCGTCCAAACC	0.522000										HNSCC(33;0.089)			7	15					0	0	8.12818e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57573125	57573125	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:57573125C>T	ENST00000243077.3	+	29	5218	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1584					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTAAGAAGTTCCTGCTGTACG	0.557000													5	19					0	0	3.59834e-05	0	0
RSPO4	343637	broad.mit.edu	37	20	947950	947950	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:947950C>T	ENST00000217260.4	-	3	372	c.276G>A	c.(274-276)ggG>ggA	p.G92G	RSPO4_ENST00000400634.2_Silent_p.G92G	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	92					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CACAAGTGGCCCCACATTCTG	0.612000													11	59					0	0	6.40141e-05	0	0
AGER	177	broad.mit.edu	37	6	32152007	32152007	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:32152007C>T	ENST00000375070.3	-	1	94	c.86G>A	c.(85-87)gGa>gAa	p.G29E	AGER_ENST00000375076.4_5'UTR|AGER_ENST00000375055.2_5'UTR|AGER_ENST00000375065.5_5'UTR|AGER_ENST00000438221.2_5'UTR|AGER_ENST00000375067.3_5'UTR			Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	0	Ig-like V-type.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CATCCTGCTTCCTTCCAGGGT	0.642000													33	84					0	0	0.00058488	0	0
OR2V2	285659	broad.mit.edu	37	5	180582353	180582353	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:180582353G>A	ENST00000328275.1	+	1	411	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCCTCATGAATCAGAGGG	0.507000													16	56					0	0	0.000422831	0	0
SMAD7	4092	broad.mit.edu	37	18	46468900	46468900	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:46468900G>A	ENST00000262158.2	-	3	979	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SMAD7_ENST00000589634.1_Silent_p.S230S|SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Silent_p.S16S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	231					adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TTTCAGCGGAGGAAGGCACAG	0.438000													34	43					0	0	0.000491102	0	0
USP31	57478	broad.mit.edu	37	16	23085100	23085100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:23085100G>A	ENST00000219689.7	-	14	2277	c.2278C>T	c.(2278-2280)Ctc>Ttc	p.L760F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	760					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGGTAGAAGAGGATGTATGCT	0.542000													12	32					0	0	0.00010058	0	0
KERA	11081	broad.mit.edu	37	12	91449722	91449722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:91449722C>T	ENST00000266719.3	-	2	584	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	113					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCTCCTTTTTCAATTCCGTAG	0.393000													33	63					0	0	0.00058488	0	0
EED	8726	broad.mit.edu	37	11	85988165	85988165	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:85988165G>A	ENST00000263360.6	+	10	1796	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	EED_ENST00000327320.4_Missense_Mutation_p.M370I|EED_ENST00000527888.1_Missense_Mutation_p.M35I|EED_ENST00000528180.1_Missense_Mutation_p.M290I|EED_ENST00000351625.6_Missense_Mutation_p.M395I	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	370	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGTTTTCTATGGATTTCTGGC	0.333000													6	104					0	0	0.000157383	0	0
ZNF625	90589	broad.mit.edu	37	19	12257028	12257028	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:12257028C>T	ENST00000355738.1	-	4	354	c.5G>A	c.(4-6)gGa>gAa	p.G2E	ZNF625_ENST00000439556.2_Missense_Mutation_p.G68E|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.G2E|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GAGTCTCTCTCCCATAAGACC	0.368000													7	42					0	0	0.000274275	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111240	7111240	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:7111240G>A	ENST00000306904.5	+	1	1076	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCAGGACGGGGGACACCGCC	0.662000													6	22					0	0	8.12818e-05	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727834	18727834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:18727834G>A	ENST00000600490.1	+	6	771	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	TMEM59L_ENST00000262817.3_Missense_Mutation_p.G196S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	196						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGAGAGCCTCGGCTTCCAGGG	0.647000													18	99					0	0	0.000132079	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284450	118284450	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:118284450C>T	ENST00000402510.2	-	1	92	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	31										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCCCTCGGTCCCTGGGGCCCA	0.617000													6	23					0	0	0.000157383	0	0
FKBP8	23770	broad.mit.edu	37	19	18652792	18652792	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:18652792G>A	ENST00000453489.2	-	2	98	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	FKBP8_ENST00000597960.2_5'UTR|FKBP8_ENST00000596558.1_5'UTR|FKBP8_ENST00000222308.3_5'UTR|FKBP8_ENST00000544835.2_5'UTR			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	0	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CTGCTGGGGGGACAGGAATTG	0.622000													8	27					0	0	0.000274275	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854230	12854230	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:12854230G>A	ENST00000332296.7	+	3	557	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	152										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGTTCATAGACATCTGCCT	0.522000													87	168					0	0	0.000781405	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979192	6979192	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:6979192C>T	ENST00000576617.1	-	7	721	c.452G>A	c.(451-453)gGg>gAg	p.G151E	CLEC10A_ENST00000416562.2_Missense_Mutation_p.G151E|CLEC10A_ENST00000254868.4_Missense_Mutation_p.G178E|CLEC10A_ENST00000571664.1_Missense_Mutation_p.G154E			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	178					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCAGCAGGTCCCTTCAGTGGA	0.592000													17	32					0	0	0.00074312	0	0
MTIF2	4528	broad.mit.edu	37	2	55481309	55481309	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:55481309G>A	ENST00000394600.3	-	8	1268	c.532C>T	c.(532-534)Cca>Tca	p.P178S	MTIF2_ENST00000263629.4_Missense_Mutation_p.P178S|MTIF2_ENST00000403721.1_Missense_Mutation_p.P178S	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	178					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGGGACCTTGGGGTTAATAAA	0.403000													9	43					0	0	0.00010058	0	0
HYDIN	54768	broad.mit.edu	37	16	70841912	70841912	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:70841912G>A	ENST00000393567.2	-	86	15087	c.14937C>T	c.(14935-14937)ggC>ggT	p.G4979G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4979										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTCCCTGGCCTCCTGGGG	0.542000													22	40					0	0	0.000175454	0	0
OTX1	5013	broad.mit.edu	37	2	63282748	63282748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:63282748C>T	ENST00000366671.3	+	5	638	c.362C>T	c.(361-363)tCc>tTc	p.S121F	OTX1_ENST00000282549.2_Missense_Mutation_p.S121F	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	121						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCTCGGGCTCCGAAAGCAGT	0.667000													5	25					0	0	3.59834e-05	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956243	48956243	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:48956243C>T	ENST00000408959.2	-	1	575	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CGACCCCGATCCGGAAGTGAC	0.682000													9	15					0	0	0.000442599	0	0
CSMD2	114784	broad.mit.edu	37	1	34174812	34174812	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:34174812G>A	ENST00000373381.4	-	22	3629	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	CSMD2_ENST00000373380.1_Silent_p.S24S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1111	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGTTGGGGGACAGCAAAG	0.478000													11	29					0	0	6.40141e-05	0	0
AC015849.16	0	broad.mit.edu	37	17	34233603	34233603	+	RNA	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:34233603G>A	ENST00000587132.1	-	0	4424																											CTACTGTATTGGAGAGGGGTT	0.532000													4	15					0	0	0.00024832	0	0
BTN1A1	696	broad.mit.edu	37	6	26508961	26508961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:26508961G>A	ENST00000244513.6	+	7	1206	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	380	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAATGTGATGAAGAAAGGAT	0.557000													8	91					0	0	0.000274275	0	0
DNAH3	55567	broad.mit.edu	37	16	20996572	20996572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:20996572C>T	ENST00000261383.3	-	48	7491	c.7492G>A	c.(7492-7494)Gat>Aat	p.D2498N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2498	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGATTCATCCTTGATCTGG	0.517000													16	46					0	0	0.000566183	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354289	118354289	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:118354289G>A	ENST00000528052.1	+	5	449	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PNLIPRP1_ENST00000534537.1_Silent_p.K126K|PNLIPRP1_ENST00000358834.4_Silent_p.K126K			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	126					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGGACTGGAAGAAGGGCTCCC	0.592000													22	35					0	0	0.000586117	0	0
EOMES	8320	broad.mit.edu	37	3	27760930	27760930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:27760930G>A	ENST00000295743.4	-	3	1282	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	EOMES_ENST00000449599.1_Missense_Mutation_p.S360F|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Missense_Mutation_p.S65F			O95936	EOMES_HUMAN	eomesodermin	360					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CATCCAGTGGGAACCAGTATT	0.413000													33	69					0	0	0.000814825	0	0
PDCL3	79031	broad.mit.edu	37	2	101185457	101185457	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:101185457G>A	ENST00000264254.6	+	3	576	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	66					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTAATGAGGAGGATGAACGTG	0.378000													7	58					0	0	8.12818e-05	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891849G>A	ENST00000271417.3	-	8	1247	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Nonsense_Mutation_p.R398*|ILDR2_ENST00000525740.1_Nonsense_Mutation_p.R271*|ILDR2_ENST00000528703.1_Nonsense_Mutation_p.R339*|ILDR2_ENST00000526687.1_Nonsense_Mutation_p.R290*|ILDR2_ENST00000529071.1_Nonsense_Mutation_p.R379*	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	398						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGCTCTCTCGATCCTCTTTG	0.597000													55	152					0	0	0.000781405	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													6	39					0	0	3.59834e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168103609	168103609	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168103609G>A	ENST00000409195.1	+	9	5796	c.5707G>A	c.(5707-5709)Gaa>Aaa	p.E1903K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1903K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1681K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1728					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAATGCCTTGAAAAAGCTAC	0.378000													19	37					0	0	0.000175454	0	0
NR1D2	9975	broad.mit.edu	37	3	23996194	23996194	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:23996194C>T	ENST00000312521.4	+	2	502	c.183C>T	c.(181-183)gcC>gcT	p.A61A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	61					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GTGATCTCGCCAATATTGAAG	0.403000													17	50					0	0	0.000566183	0	0
KLHL17	339451	broad.mit.edu	37	1	900534	900534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:900534C>T	ENST00000338591.3	+	12	1999	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	631	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGCCGCCATCCTCCCCGACG	0.662000													17	16					0	0	0.000958276	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364690	142364690	+	RNA	SNP	T	T	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:142364690T>C	ENST00000390397.2	+	0	361																											AGCTCTTTACTTCTGTGCCAC	0.507000													63	25					0	0	0.000781405	0	0
PKHD1	5314	broad.mit.edu	37	6	51890761	51890761	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:51890761A>G	ENST00000371117.3	-	32	4122	c.3847T>C	c.(3847-3849)Tca>Cca	p.S1283P	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1283P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1283	IPT/TIG 7.		S -> L.		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCTTGGTGAAGGACCACGG	0.582000													14	19					0	0	0.000308642	0	0
FAM131A	131408	broad.mit.edu	37	3	184059730	184059730	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:184059730C>T	ENST00000310585.4	+	1	1473	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000453072.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	37						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGGTGAATCTCAGCCCCTT	0.557000													32	78					0	0	0.000279167	0	0
TFR2	7036	broad.mit.edu	37	7	100218570	100218570	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:100218570G>A	ENST00000462107.1	-	19	2603	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	TFR2_ENST00000223051.3_Silent_p.F772F|TFR2_ENST00000544242.1_Silent_p.F313F|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	772					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGACGCCGGAAACGGCTCT	0.662000													16	12					0	0	0.000422831	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792841	21792841	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:21792841C>T	ENST00000307974.4	+	1	53	c.53C>T	c.(52-54)cCc>cTc	p.P18L	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Silent_p.A609A|RPGRIP1_ENST00000400017.2_Silent_p.A609A|RPGRIP1_ENST00000557771.1_Silent_p.A571A			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	667					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGCCAGCCCATGGAGATG	0.493000													27	69					0	0	0.000227799	0	0
RXFP3	51289	broad.mit.edu	37	5	33938001	33938001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:33938001C>T	ENST00000330120.3	+	1	1511	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	386						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGCCTCAACCCCGTCCTCTA	0.622000													14	71					0	0	0.000566183	0	0
TCF20	6942	broad.mit.edu	37	22	42609771	42609771	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:42609771G>T	ENST00000359486.3	-	1	1677	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H	TCF20_ENST00000335626.4_Missense_Mutation_p.P514H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTCTGCCATAGGGGACTTCAG	0.532000													8	219					0.000274275	0.00436574	0.000274275	1	0
OR2F1	26211	broad.mit.edu	37	7	143657556	143657556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:143657556C>T	ENST00000392899.1	+	1	530	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TATCACCTTTCAGCTGCCCAT	0.522000													7	82					0	0	8.12818e-05	0	0
TP53	7157	broad.mit.edu	37	17	7577540	7577540	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:7577540G>A	ENST00000420246.2	-	7	873	c.741C>T	c.(739-741)aaC>aaT	p.N247N	TP53_ENST00000269305.4_Silent_p.N247N|TP53_ENST00000455263.2_Silent_p.N247N|TP53_ENST00000359597.4_Silent_p.N247N|TP53_ENST00000413465.2_Silent_p.N247N|TP53_ENST00000445888.2_Silent_p.N247N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	247	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(16)|p.N247N(10)|p.0?(8)|p.?(5)|p.N247K(2)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.N247I(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGGCCTCCGGTTCATGCCGC	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	46					0	0	0.000132079	0	0
DBX2	440097	broad.mit.edu	37	12	45410273	45410273	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:45410273G>A	ENST00000332700.6	-	4	987	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGGAGAAGGGAAACCCAGAG	0.483000													29	56					0	0	0.000147802	0	0
DMBT1	1755	broad.mit.edu	37	10	124402684	124402684	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:124402684C>T	ENST00000368909.3	+	53	7118	c.7012C>T	c.(7012-7014)Cgc>Tgc	p.R2338C	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1710C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2328C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1058C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2328C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2338C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1710C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2338	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATCTCTTCGCATTGCCCG	0.567000													14	51					0	0	0.000132079	0	0
TULP1	7287	broad.mit.edu	37	6	35467845	35467845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:35467845C>T	ENST00000229771.6	-	14	1487	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	TULP1_ENST00000322263.4_Missense_Mutation_p.D417N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	470					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACTGTCATCGTTCCAGACA	0.592000													32	56					0	0	0.000491102	0	0
OR10A5	144124	broad.mit.edu	37	11	6867792	6867792	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6867792G>A	ENST00000299454.4	+	1	910	c.879G>A	c.(877-879)ttG>ttA	p.L293L	OR10A5_ENST00000379831.2_Silent_p.L297L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCTTGAGAAATAGCG	0.433000													22	49					0	0	0.000229342	0	0
ZNF208	7757	broad.mit.edu	37	19	22155631	22155631	+	Silent	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:22155631G>A	ENST00000397126.4	-	4	2353	c.2205C>T	c.(2203-2205)gtC>gtT	p.V735V	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)				GTTTAGTAAGGACTGAGAATG	0.378000													20	42					0	0	0.000295444	0	0
ZNF827	152485	broad.mit.edu	37	4	146824144	146824144	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:146824144C>T	ENST00000508784.1	-	2	494	c.267G>A	c.(265-267)gaG>gaA	p.E89E	ZNF827_ENST00000379448.4_Silent_p.E89E|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTCGCAGGACCTCACTGTCCA	0.597000													16	27					0	0	0.000308642	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089945	115089945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:115089945C>T	ENST00000361283.1	+	3	937	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	210	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ACCACAGAAACCTGCCCCTGT	0.493000													47	176					0	0	0.000781405	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:35853067C>T	ENST00000314607.6	+	13	2205	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.Q620*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	709					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAATGTTTCAGTTCTGTGG	0.294000													14	36					0	0	0.000308642	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:71570920G>A	ENST00000338482.5	+	3	683	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.E114K|CHST4_ENST00000539698.3_Missense_Mutation_p.E114K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	114					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000													22	33					0	0	0.000878237	0	0
ZNF225	7768	broad.mit.edu	37	19	44635878	44635878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44635878C>T	ENST00000262894.6	+	5	1391	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.P371S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGGGGAGAAGCCATATAATTG	0.428000													30	45					0	0	0.000147802	0	0
SHANK2	22941	broad.mit.edu	37	11	70336421	70336421	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:70336421C>T	ENST00000338508.4	-	30	2513	c.2514G>A	c.(2512-2514)ctG>ctA	p.L838L	SHANK2_ENST00000449833.2_Silent_p.L242L|SHANK2_ENST00000449116.2_Silent_p.L239L|SHANK2_ENST00000423696.2_Silent_p.L458L|SHANK2_ENST00000409530.1_Silent_p.L248L|SHANK2_ENST00000409161.1_Silent_p.L241L|SHANK2_ENST00000357171.3_Silent_p.L249L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	458					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGGATGCCCAGAAACGGGG	0.562000													26	50					0	0	0.000878237	0	0
ZNF618	114991	broad.mit.edu	37	9	116811400	116811400	+	Silent	SNP	C	C	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:116811400C>T	ENST00000288466.7	+	14	1638	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.F606F	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F606F(1)|p.F513F(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGTTCGTGATGTCGG	0.597000													33	26					0	0	0.000228196	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270856	16270856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:16270856delA	ENST00000375733.2	-	9	1548	c.1310delT	c.(1309-1311)cgfs	p.L437fs	ZBTB17_ENST00000537142.1_Frame_Shift_Del_p.L355fs|ZBTB17_ENST00000375743.4_Frame_Shift_Del_p.L437fs|ZBTB17_ENST00000448462.2_Frame_Shift_Del_p.L374fs			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	437					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGTCTCCAGGTGGCGCAT	0.647													2	4	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2892)aaafs	p.K964fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356													8	86	---	---	---	---					
DCP1A	55802	broad.mit.edu	37	3	53326674	53326675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:53326674_53326675insA	ENST00000607628.1	-	7	916_917	c.807_808insT	c.(805-810)ccaatcfs	p.I270fs	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Frame_Shift_Ins_p.I232fs|DCP1A_ENST00000294241.6_Frame_Shift_Ins_p.I270fs	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	270					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	p.Q270E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTTTCTGATTGAGGGGCTCCTC	0.530													6	13	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													3	4	---	---	---	---