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
SYT2	127833	broad.mit.edu	37	1	202571539	202571539	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:202571539C>T	ENST00000367267.1	-	5	792	c.600G>A	c.(598-600)ctG>ctA	p.L200L	SYT2_ENST00000367268.4_Silent_p.L200L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.L200L(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGGCAGGGTTCAGTGTCTTCC	0.517000													159	79					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939476	43939476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:43939476C>T	ENST00000282406.4	+	15	2524	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	805						cytoplasm|cytoskeleton|integral to membrane	binding	p.S805F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACCCACTTTCCCTGCAGCCT	0.478000													51	49					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011968	108011968	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:108011968G>A	ENST00000280758.5	+	10	2793	c.2265G>A	c.(2263-2265)gaG>gaA	p.E755E	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.E755E|BTBD11_ENST00000357167.4_Silent_p.E292E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	755						integral to membrane	DNA binding	p.E755E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCAGCCAGAGAAGGAGAAGA	0.597000													9	64					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296180	79296180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:79296180C>T	ENST00000419573.3	-	16	2735	c.2461G>A	c.(2461-2463)Gag>Aag	p.E821K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E37K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E805K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	823					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.E821K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCGGGCTTCTCAGGGGTCGTA	0.627000													34	43					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35521386	35521386	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:35521386G>A	ENST00000262878.4	-	16	2029	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	TLDC2_ENST00000217320.3_3'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	610					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.L610L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTTCTCGGAGGCGAGTTG	0.428000													93	163					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535556	52535556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:52535556C>G	ENST00000216286.5	-	1	156	c.157G>C	c.(157-159)Gac>Cac	p.D53H	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	53						basement membrane	calcium ion binding|collagen binding	p.D53H(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGCTTTCGTCGTCGCCTTCC	0.627000													26	21					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:186304579G>A	ENST00000367478.4	-	34	5098	c.4802C>T	c.(4801-4803)gCg>gTg	p.A1601V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.A1602V(1)|p.A1601V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423000			T	NTRK1	papillary thyroid								6	31					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697333	6697333	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6697333C>A	ENST00000377577.5	-	14	1572	c.1449G>T	c.(1447-1449)gtG>gtT	p.V483V	DNAJC11_ENST00000542246.1_Silent_p.V445V|DNAJC11_ENST00000377573.5_Silent_p.V393V|DNAJC11_ENST00000294401.7_Silent_p.V431V|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	483					protein folding		heat shock protein binding|unfolded protein binding	p.V483V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCACCTTCACCTTCTCGC	0.562000													91	117					3.28864e-39	3.4958e-39	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155152267	155152267	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155152267G>A	ENST00000392451.2	+	9	1566	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	TRIM46_ENST00000334634.4_Missense_Mutation_p.R482Q|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.G502S|TRIM46_ENST00000368382.1_Missense_Mutation_p.R459Q|TRIM46_ENST00000368383.3_Missense_Mutation_p.R482Q|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.R356Q|TRIM46_ENST00000368385.4_Missense_Mutation_p.R482Q			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	0	Fibronectin type-III.					intracellular	zinc ion binding	p.R482Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCAGCGGCGGGAGGAG	0.687000													6	18					0	0	1	0	0
TRBJ2-4	28625	broad.mit.edu	37	7	142494712	142494712	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:142494712G>A	ENST00000390416.1	+	0	31																											TCGGCGCCGGGACCCGGCTCT	0.711000													3	6					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52863536	52863536	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:52863536C>T	ENST00000371568.3	-	4	442		c.e4-1		ORC1_ENST00000371566.1_Splice_Site	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1						cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.?(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGATCAGAGTCTAGAAAGAAT	0.478000													34	98					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964977	123964977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:123964977G>C	ENST00000314393.4	+	3	2062	c.1227G>C	c.(1225-1227)ttG>ttC	p.L409F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	409	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L409F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAGACCCTTGGTGACTCCCC	0.637000													3	54					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50121635	50121635	+	RNA	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:50121635C>A	ENST00000376025.2	-	0	2976							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G769C(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCACAGAACCAAAGATTGCC	0.537000													3	2					6.4e-05	6.48e-05	1	1	0
CIT	11113	broad.mit.edu	37	12	120263155	120263155	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:120263155C>T	ENST00000392521.2	-	8	826	c.771G>A	c.(769-771)ccG>ccA	p.P257P	CIT_ENST00000261833.7_Silent_p.P257P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	257	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.P257P(2)|p.P258P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTCCCAATCGGGAGTTTGG	0.493000													40	64					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390122	150390122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:150390122C>T	ENST00000223293.5	+	3	842	c.748C>T	c.(748-750)Caa>Taa	p.Q250*		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	250						integral to membrane	GTP binding	p.Q250*(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGAAACTCAAAGAAGTTA	0.383000													28	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64586261	64586261	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:64586261G>A	ENST00000357395.3	+	68	13256	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	SYNE2_ENST00000554584.1_Silent_p.L4334L|SYNE2_ENST00000553455.1_Silent_p.L38L|SYNE2_ENST00000344113.4_Silent_p.L4319L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L953L|SYNE2_ENST00000358025.3_Silent_p.L4319L|SYNE2_ENST00000394768.2_Silent_p.L704L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4319					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L4319L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCTGAAACTGAAAACAGTGA	0.428000													32	21					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116651	161116651	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:161116651C>A	ENST00000523217.1	+	6	751	c.509C>A	c.(508-510)cCc>cAc	p.P170H	GABRA6_ENST00000274545.5_Missense_Mutation_p.P180H	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	180					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.P180H(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGCTTATCCCAAAAGTGAA	0.328000										TCGA Ovarian(5;0.080)			6	15					1.06961e-07	1.09392e-07	1	1	0
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:93516176G>A	ENST00000222543.5	-	5	976	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R222C(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328000													33	85					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556186	7556186	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7556186A>G	ENST00000313599.3	-	6	1410	c.1353T>C	c.(1351-1353)gaT>gaC	p.D451D	CD163L1_ENST00000396630.1_Silent_p.D451D|CD163L1_ENST00000416109.2_Silent_p.D461D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	451	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D451D(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGCTTTTCCATCATATGTGC	0.413000													4	24					0	0	1	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815090	89815090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:89815090G>A	ENST00000315948.6	-	3	611	c.467C>T	c.(466-468)tCa>tTa	p.S156L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	156					cell wall macromolecule catabolic process	integral to membrane		p.S156L(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GCTACCAGCTGAGTCACTGTA	0.398000													14	41					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151138954	151138954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:151138954G>A	ENST00000368905.4	+	2	170	c.59G>A	c.(58-60)aGa>aAa	p.R20K	SCNM1_ENST00000461862.1_3'UTR	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	20					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	p.R20K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAAAGAAGAGTCGGGGAC	0.527000													9	61					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46228946	46228946	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:46228946G>A	ENST00000397898.3	-	3	320	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	0	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GGAACCACGCGAAGCCAGCTC	0.502000													31	19					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152583252	152583252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:152583252C>T	ENST00000367255.5	-	101	19488	c.18887G>A	c.(18886-18888)aGa>aAa	p.R6296K	SYNE1_ENST00000341594.5_Missense_Mutation_p.R5908K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6296K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000356820.4_Missense_Mutation_p.R820K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R6296K(2)|p.R6225K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATTTCATTCTCATCTGGTC	0.378000										HNSCC(10;0.0054)			23	61					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480979	32480979	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32480979C>T	ENST00000266088.4	+	9	1228	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SLC5A1_ENST00000543737.1_Silent_p.F199F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	326					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.F326F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGCCCATGTTCATCATGGTGA	0.502000													25	86					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872833	36872833	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:36872833G>C	ENST00000429976.2	-	21	8356	c.8109C>G	c.(8107-8109)gtC>gtG	p.V2703V	TRANK1_ENST00000428977.2_Silent_p.V2153V|TRANK1_ENST00000301807.6_Silent_p.V2153V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2703					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V2153V(1)|p.V2703V(1)|p.V2146V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCCTCCCTGACACGCTCCA	0.592000													21	8					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137041602	137041602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:137041602G>C	ENST00000359015.4	-	2	934	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	192					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.L192V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGACTGCAGAGAGTCCGAG	0.443000													15	13					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43650630	43650630	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:43650630C>A	ENST00000264663.5	+	12	1879	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	NNT_ENST00000344920.4_Missense_Mutation_p.S553Y|NNT_ENST00000512996.2_Missense_Mutation_p.S422Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	553					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	p.S553Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTGTATCCTTCCACAACTTCT	0.443000													19	53					6.44725e-10	6.66106e-10	1	1	0
SETD2	29072	broad.mit.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:47144868G>A	ENST00000409792.3	-	7	4927	c.4885C>T	c.(4885-4887)Cac>Tac	p.H1629Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333000			"""N, F, S, Mis"""		clear cell renal carcinoma								33	125					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19741332	19741332	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:19741332C>G	ENST00000203556.4	-	20	2624	c.2487G>C	c.(2485-2487)caG>caC	p.Q829H	GMIP_ENST00000445806.2_Missense_Mutation_p.Q800H|GMIP_ENST00000587238.1_Missense_Mutation_p.Q803H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	829					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.Q829H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGGTCACTCTGTGGAGTTG	0.542000													71	46					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964633	67964633	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67964633G>A	ENST00000574481.1	-	4	875	c.314C>T	c.(313-315)tCt>tTt	p.S105F		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	105	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.S105F(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ACTCACCCGAGAGACGGACAG	0.607000													38	147					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49176030	49176030	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:49176030G>A	ENST00000340334.7	-	17	1961	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	FOLH1_ENST00000533034.1_Silent_p.F531F|FOLH1_ENST00000343844.4_Silent_p.F238F|FOLH1_ENST00000356696.3_Silent_p.F546F|FOLH1_ENST00000256999.2_Silent_p.F546F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	546	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.F546F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GATAGCCGCTGAATTTGTTTG	0.333000													3	21					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2110409	2110409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:2110409C>T	ENST00000382203.1	+	24	3657	c.3448C>T	c.(3448-3450)Cct>Tct	p.P1150S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.P1150S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P1150S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P1150S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1150	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.P1146S(1)|p.P1150S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGACTGGAATCCTCATCAGGT	0.478000													20	8					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18005268	18005268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18005268G>A	ENST00000225729.3	+	9	901	c.763G>A	c.(763-765)Gag>Aag	p.E255K	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.E255K	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	255					signal transduction		GTP binding	p.E255K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CTCCATGGAAGAGGTGGACCG	0.567000													16	8					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125568500	125568500	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:125568500C>T	ENST00000518547.1	-	12	1850	c.1377G>A	c.(1375-1377)cgG>cgA	p.R459R	MTSS1_ENST00000325064.5_Silent_p.R463R|MTSS1_ENST00000524090.1_Silent_p.R349R|MTSS1_ENST00000378017.3_Silent_p.R434R|MTSS1_ENST00000395508.2_Silent_p.R233R|MTSS1_ENST00000354184.4_Silent_p.R177R|MTSS1_ENST00000431961.2_Silent_p.R177R|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	459					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.R459R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGTCATGCTCCGTGGTCTCT	0.632000													9	22					0	0	1	0	0
PDE7A	5150	broad.mit.edu	37	8	66659966	66659966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:66659966C>G	ENST00000401827.3	-	4	799	c.356G>C	c.(355-357)aGa>aCa	p.R119T	PDE7A_ENST00000396642.3_Missense_Mutation_p.R119T|PDE7A_ENST00000379419.4_Missense_Mutation_p.R93T|PDE7A_ENST00000518667.1_5'UTR	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	119						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.R93T(1)|p.R119T(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GCGTGAAGATCTAAGATATCG	0.343000													15	33					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43450556	43450556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:43450556C>G	ENST00000282041.5	-	36	6235	c.6201G>C	c.(6199-6201)caG>caC	p.Q2067H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2067					autophagy			p.Q2067H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCATGAGCATCTGGTCAGGGT	0.517000													9	30					0	0	1	0	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290498	155290498	+	RNA	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155290498C>A	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA			Q66K80	RUAS1_HUMAN																			GAGTCTGGCTCTTTCCAGAAT	0.547000													32	18					2.61193e-14	2.71936e-14	1	1	0
NDRG4	65009	broad.mit.edu	37	16	58537754	58537754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58537754C>G	ENST00000394282.4	+	4	637	c.230C>G	c.(229-231)tCc>tGc	p.S77C	NDRG4_ENST00000566192.1_Missense_Mutation_p.S25C|NDRG4_ENST00000356752.4_Missense_Mutation_p.S55C|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.S57C|NDRG4_ENST00000568640.1_Missense_Mutation_p.S43C|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Missense_Mutation_p.S25C|NDRG4_ENST00000394279.2_Missense_Mutation_p.S57C|NDRG4_ENST00000562999.1_Missense_Mutation_p.S25C|NDRG4_ENST00000563799.1_Missense_Mutation_p.S25C	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	25					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		p.S57C(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ATCCGGGGCTCCCCCAAGGGG	0.622000													10	71					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610766	50610766	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:50610766C>T	ENST00000371824.1	+	2	404	c.147C>T	c.(145-147)atC>atT	p.I49I	ELAVL4_ENST00000371827.1_Silent_p.I49I|ELAVL4_ENST00000371819.1_Silent_p.I54I|ELAVL4_ENST00000357083.4_Silent_p.I66I|ELAVL4_ENST00000371821.1_Silent_p.I54I|ELAVL4_ENST00000448907.2_Silent_p.I52I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371823.4_Silent_p.I49I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	49	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.I49I(1)|p.I66I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCAACCTCATCGTCAACTATT	0.448000													8	31					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296555	39296555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:39296555C>T	ENST00000345847.4	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcAGGT	0.667000													13	49					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72297252	72297252	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:72297252A>G	ENST00000579490.1	+	7	1238	c.1103A>G	c.(1102-1104)aAg>aGg	p.K368R	DNAI2_ENST00000446837.2_Missense_Mutation_p.K311R|DNAI2_ENST00000307504.5_Missense_Mutation_p.K168R|DNAI2_ENST00000582036.1_Missense_Mutation_p.K311R|DNAI2_ENST00000311014.6_Missense_Mutation_p.K311R			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	311					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.K311R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATCACCAAGAAGGAACAGTTG	0.547000									Kartagener syndrome				103	172					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216890	97216890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:97216890C>T	ENST00000454558.2	+	7	1598	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	ARID5A_ENST00000357485.3_Nonsense_Mutation_p.Q209*			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	209	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.Q209*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTCCCAGCCAGGAGCCCCC	0.597000													73	117					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:145806415C>T	ENST00000276826.5	-	2	528	c.327G>A	c.(325-327)ctG>ctA	p.L109L	ARHGAP39_ENST00000377307.2_Silent_p.L109L|ARHGAP39_ENST00000540274.1_Silent_p.L109L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	109					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.L109L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGTTCTGCTTCAGCGTCTGCA	0.701000													8	3					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20438615	20438615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:20438615G>A	ENST00000222573.4	+	9	1963	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E292K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.E427K(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GAGCAATGATGAAGTATGTGG	0.388000													11	27					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135261759	135261759	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135261759G>C	ENST00000285968.6	+	5	557	c.531G>C	c.(529-531)ctG>ctC	p.L177L	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L177L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CAGATGAGCTGATGGAGCAAG	0.388000													12	23					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864348	22864348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:22864348G>A	ENST00000283645.4	+	16	2436	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R769H	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	769					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.R769H(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTAGGACAGCGTTATCCTGAA	0.348000													6	156					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032895	74032895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74032895G>C	ENST00000569673.1	-	3	1449	c.245C>G	c.(244-246)tCt>tGt	p.S82C	C15orf59_ENST00000379822.4_Missense_Mutation_p.S82C|C15orf59_ENST00000558834.1_Intron			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	82								p.S82C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCACTGCTAGAGGTGCTGCT	0.587000													84	385					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906612	56906612	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:56906612G>C	ENST00000438926.2	+	8	1038	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	SLC12A3_ENST00000566786.1_Missense_Mutation_p.D336H|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D336H|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D337H	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	337					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.D337H(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCGGGGTCCAGATGGCACCTT	0.562000													41	40					0	0	1	0	0
LOC100134368	100134368	broad.mit.edu	37	16	437161	437161	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:437161G>A	ENST00000412293.1	+	0	521					NR_024453.2																						CTGATGGAGAGAAGAAGGCAT	0.478000													22	92					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160156351	160156351	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:160156351G>A	ENST00000543469.1	-	2	835	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TRIM59_ENST00000309784.4_Silent_p.L207L|RP11-432B6.3_ENST00000483754.1_Silent_p.L207L			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	207						integral to membrane|intracellular	zinc ion binding	p.L207L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACATCACAGAGAGCCGTTA	0.353000													38	161					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1213916	1213916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:1213916G>A	ENST00000397203.2	+	4	1493	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Splice_Site_p.E363K|ERC1_ENST00000589028.1_Splice_Site_p.E363K|ERC1_ENST00000546231.2_Splice_Site_p.E363K|ERC1_ENST00000355446.5_Splice_Site_p.E363K|ERC1_ENST00000543086.3_Splice_Site_p.E363K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	363					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.E363K(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTTTCTACAGGAGATGCATCG	0.413000													26	111					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783886	43783886	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:43783886G>T	ENST00000263801.3	-	4	589	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q118K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	113					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.Q113K(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGTTTGGCTGAGGTAACTGC	0.393000								Other conserved DNA damage response genes					169	335					6.04909e-70	6.48116e-70	1	1	0
KLHL7	55975	broad.mit.edu	37	7	23180423	23180423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:23180423G>A	ENST00000339077.5	+	5	721	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	KLHL7_ENST00000545443.1_Missense_Mutation_p.E138K|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.E138K|KLHL7_ENST00000539124.1_Missense_Mutation_p.E84K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E112K|KLHL7_ENST00000479288.1_3'UTR	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane		p.E138K(1)|p.E160K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATTGTCCTGAATTGAAAGC	0.328000													67	57					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214794110	214794110	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:214794110C>T	ENST00000366955.3	+	6	854	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	229	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.S229L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTCATCTTTCATCTAATTCT	0.458000													67	36					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914733	32914733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:32914733G>C	ENST00000544455.1	+	11	6468	c.6241G>C	c.(6241-6243)Gag>Cag	p.E2081Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E2081Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2081					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.E2081Q(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAGTGTTAGAGGAATTTGA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			56	71					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36744610	36744610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:36744610G>C	ENST00000280527.2	+	12	2498	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	711	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.E711Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGTGCTGTGTGAGACAGAGGT	0.582000													9	95					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373695	11373695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:11373695G>C	ENST00000528848.2	-	1	1209	c.972C>G	c.(970-972)ttC>ttG	p.F324L	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CAACAGTGTAGAAATAGGGGT	0.547000													25	58					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32635714	32635714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:32635714C>T	ENST00000319778.6	-	1	432	c.130G>A	c.(130-132)Gga>Aga	p.G44R	EPC1_ENST00000263062.8_Missense_Mutation_p.G44R|EPC1_ENST00000480402.1_5'UTR|EPC1_ENST00000375110.2_Intron|RP11-135A24.4_ENST00000412085.1_RNA	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	44					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.G44R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTCTCCATTCCGGTGGGCATC	0.647000											OREG0020115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	79					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149885327	149885327	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:149885327G>T	ENST00000369146.3	-	2	556	c.66C>A	c.(64-66)gtC>gtA	p.V22V	SV2A_ENST00000369145.1_Silent_p.V22V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	22	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.V22V(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATGCTTTTTGACTTCCTTAG	0.552000													130	181					8.39805e-80	9.02177e-80	1	1	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290466	155290466	+	RNA	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155290466C>G	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA			Q66K80	RUAS1_HUMAN																			TCTTGTGGTTCTGTTCTTGCT	0.557000													29	20					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511051	48511051	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:48511051C>G	ENST00000446524.1	+	1	783	c.707C>G	c.(706-708)tCa>tGa	p.S236*		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236*(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAAGCCCTCTCAACCTGCAGT	0.433000													14	27					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202490	24202490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:24202490G>A	ENST00000303531.7	+	16	1954	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.R601Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	601	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R601Q(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCATTTTTCCGGTATATTGAT	0.463000													3	87					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152717	151152717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:151152717C>G	ENST00000367328.1	+	16	2782	c.2470C>G	c.(2470-2472)Cat>Gat	p.H824D	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.H824D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	824					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.H824D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCTATGCCTCATAAGCCTGT	0.458000													123	155					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44169940	44169940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:44169940G>A	ENST00000372396.3	+	22	3228	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1032					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.E1032K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATTTTCACAGAGAAAGAGGT	0.438000													144	172					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523842	55523842	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:55523842C>G	ENST00000302118.5	+	8	1604	c.1314C>G	c.(1312-1314)ccC>ccG	p.P438P	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	438					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P438P(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TACTGACCCCCAACCTGGTGG	0.627000													15	71					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570652	104570652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:104570652C>G	ENST00000551177.1	+	8	857	c.765C>G	c.(763-765)ttC>ttG	p.F255L	ASPG_ENST00000455920.2_Missense_Mutation_p.F255L|ASPG_ENST00000546892.2_Missense_Mutation_p.F255L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	255	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.F255L(1)|p.F283L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TTCGGGCCTTCTTGCAGCCTC	0.677000													8	23					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766413C>G	ENST00000368952.4	-	22	3215	c.2925G>C	c.(2923-2925)ttG>ttC	p.L975F	MICAL1_ENST00000358577.3_Missense_Mutation_p.L870F|MICAL1_ENST00000358807.3_Missense_Mutation_p.L956F			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	956					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.L956F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592000													14	74					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597000													17	40					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45007713	45007713	+	Missense_Mutation	SNP	G	G	A	rs148494241		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:45007713G>A	ENST00000558401.1	+	2	230	c.160G>A	c.(160-162)Gac>Aac	p.D54N	B2M_ENST00000559916.1_Missense_Mutation_p.D54N|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.D54N	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	54	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.D54N(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCATCCATCCGACATTGAAGT	0.408000													65	252					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75048154	75048154	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:75048154G>C	ENST00000453279.2	-	15	3753	c.2889C>G	c.(2887-2889)tcC>tcG	p.S963S	POM121C_ENST00000257665.5_Silent_p.S1205S	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1205	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.S963S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCGCACCAATGGAAAATGAAG	0.592000													6	26					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18004839	18004839	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18004839G>C	ENST00000225729.3	+	8	802	c.664G>C	c.(664-666)Gac>Cac	p.D222H	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D222H	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	222					signal transduction		GTP binding	p.D222H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TTTCCGAGAAGACTGCTCCCC	0.607000													31	45					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188121	152188121	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:152188121G>T	ENST00000368801.2	-	3	6059	c.5984C>A	c.(5983-5985)tCt>tAt	p.S1995Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1995					keratinization		calcium ion binding|protein binding	p.S1995Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGAGCGAGACTCTCGGTG	0.572000													76	1273					5.43694e-19	5.71937e-19	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79270112	79270112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:79270112G>T	ENST00000554719.1	+	6	1566	c.1075G>T	c.(1075-1077)Gac>Tac	p.D359Y	NRXN3_ENST00000335750.5_Missense_Mutation_p.D359Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	137					angiogenesis|cell adhesion	integral to membrane		p.D359Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACTCTGCCGACACCCTGCG	0.572000													12	21					1.5842e-08	1.63257e-08	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769192	140769192	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140769192G>C	ENST00000519479.1	+	1	1741	c.1741G>C	c.(1741-1743)Gag>Cag	p.E581Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.E581Q(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGCTGCAGAGCCTGGCTA	0.652000													12	39					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136804249	136804249	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:136804249G>T	ENST00000371851.1	-	2	622	c.297C>A	c.(295-297)ctC>ctA	p.L99L	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Silent_p.L99L|VAV2_ENST00000406606.3_Silent_p.L99L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	99	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.L99L(2)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCACATCGAAGAGGTCAAAGG	0.532000													30	107					2.24059e-21	2.36313e-21	1	1	0
GGA1	26088	broad.mit.edu	37	22	38010268	38010268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:38010268G>A	ENST00000343632.4	+	2	501	c.115G>A	c.(115-117)Gag>Aag	p.E39K	GGA1_ENST00000337437.4_Missense_Mutation_p.E39K|GGA1_ENST00000381756.5_Missense_Mutation_p.E39K|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Missense_Mutation_p.E39K|GGA1_ENST00000325180.8_Missense_Mutation_p.E39K|GGA1_ENST00000414350.3_Missense_Mutation_p.E39K	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	39	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.E39K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCAGCTCAACGAGGACTTTGA	0.607000													13	42					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7985051	7985051	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:7985051G>C	ENST00000318888.4	-	19	1738	c.867C>G	c.(865-867)ctC>ctG	p.L289L	ABLIM2_ENST00000407564.3_Silent_p.L464L|ABLIM2_ENST00000505872.1_Silent_p.L502L|ABLIM2_ENST00000361581.5_Silent_p.L515L|ABLIM2_ENST00000341937.5_Silent_p.L554L|ABLIM2_ENST00000514025.1_Silent_p.L289L|ABLIM2_ENST00000296372.8_Silent_p.L516L|ABLIM2_ENST00000447017.2_Silent_p.L588L|ABLIM2_ENST00000546334.1_Silent_p.L474L|ABLIM2_ENST00000545242.1_Silent_p.L514L|ABLIM2_ENST00000361737.5_Silent_p.L474L			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	554					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	p.L588L(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTGTGACGATGAGGGAGTCAT	0.562000													6	25					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16623915	16623915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16623915C>T	ENST00000443444.2	+	8	1974	c.1834C>T	c.(1834-1836)Cac>Tac	p.H612Y	CCDC144A_ENST00000360524.8_Missense_Mutation_p.H612Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H612Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.H332Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H612Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	612								p.H612Y(1)									TGAATTGTCTCACTCTGTTTA	0.373000													5	40					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94476481	94476481	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94476481C>T	ENST00000370225.3	-	40	5675	c.5589G>A	c.(5587-5589)gaG>gaA	p.E1863E	ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Silent_p.E133E|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1863					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E1863E(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGAGTGCTCCTCACCTGGGC	0.592000													8	30					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:175897020C>T	ENST00000359240.3	+	5	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S115F(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443000													9	31					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178946	67178946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:67178946G>C	ENST00000269081.4	-	22	3410	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	834					transport	integral to membrane	ATP binding|ATPase activity	p.S834*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCAATATTTGATCCTAACAT	0.333000													8	47					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36624296	36624296	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624296C>G	ENST00000249066.6	-	6	644	c.168G>C	c.(166-168)ctG>ctC	p.L56L	APOL2_ENST00000451256.2_Silent_p.L168L|APOL2_ENST00000358502.5_Silent_p.L56L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	56					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	p.L56L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAAGCTTGTTCAGAGCTTTAC	0.453000													55	150					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29438918	29438918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:29438918G>C	ENST00000343067.4	+	19	2581	c.2454G>C	c.(2452-2454)aaG>aaC	p.K818N	EPB41_ENST00000398863.2_Missense_Mutation_p.K721N|EPB41_ENST00000356093.2_Missense_Mutation_p.K785N|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.K729N|EPB41_ENST00000349460.4_Missense_Mutation_p.K595N|EPB41_ENST00000373798.1_Missense_Mutation_p.K818N|EPB41_ENST00000373800.3_Missense_Mutation_p.K542N	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	818	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.K818N(1)|p.K595N(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTATTGAAAAGAGAATTGTGA	0.428000													31	106					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000437822.2_Silent_p.Q194Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602000													93	227					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060249	54060249	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:54060249C>T	ENST00000312233.2	-	3	893	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	109					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L109L(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATCTCCCGTCAGAGGGGGGC	0.657000													19	56					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19947930	19947930	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:19947930G>A	ENST00000379687.3	-	10	2025	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Silent_p.F693F	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	693						mitochondrion		p.F664F(1)|p.F258F(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ATCTTTCTCTGAACTTATGAG	0.333000													76	17					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:51957508C>G	ENST00000321424.3	-	6	1276	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E295Q|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E311Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	404					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E404Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597000													21	143					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997499	45997499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:45997499C>G	ENST00000245923.4	-	4	974	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	RTN2_ENST00000344680.4_Missense_Mutation_p.E247Q|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	247						integral to endoplasmic reticulum membrane	signal transducer activity	p.E247Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGCTCTCGCTCCAGTGGCCCC	0.577000													154	78					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79164838	79164838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164838C>G	ENST00000269392.4	-	23	3068	c.2821G>C	c.(2821-2823)Gag>Cag	p.E941Q	AZI1_ENST00000450824.2_Missense_Mutation_p.E938Q|AZI1_ENST00000374782.3_Missense_Mutation_p.E902Q|AZI1_ENST00000575907.1_Missense_Mutation_p.E905Q	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	941					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E938Q(1)|p.E902Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCGACTGCTCCAGCTCGGAG	0.662000													20	76					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433450	55433450	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:55433450G>T	ENST00000314259.3	+	1	837	c.808G>T	c.(808-810)Gct>Tct	p.A270S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CAAGGCAATGGCTGTGTCAGA	0.463000													15	9					1.3612e-06	1.38514e-06	1	1	0
INHA	3623	broad.mit.edu	37	2	220439960	220439960	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220439960C>T	ENST00000243786.2	+	2	993	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	271					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	p.F271F(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACATCTCCTTCCAGGAGCTGG	0.607000													27	66					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47806511	47806511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:47806511C>G	ENST00000378460.2	-	33	3999	c.3953G>C	c.(3952-3954)gGa>gCa	p.G1318A	NUP160_ENST00000530326.1_Missense_Mutation_p.G1204A	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1318					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.G1318A(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAGAGGCACTCCATGAGACAA	0.398000													75	54					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611504	61611504	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:61611504C>T	ENST00000583023.1	+	5	944	c.933C>T	c.(931-933)ttC>ttT	p.F311F	KCNH6_ENST00000581784.1_Silent_p.F311F|KCNH6_ENST00000456941.2_Silent_p.F311F|KCNH6_ENST00000314672.5_Silent_p.F311F|KCNH6_ENST00000580652.1_Silent_p.F311F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	311					regulation of transcription, DNA-dependent|signal transduction			p.F311F(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACATCATGTTCGTCGTGGACA	0.587000													24	353					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28589746	28589746	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:28589746C>T	ENST00000380982.4	-	21	2724	c.2643G>A	c.(2641-2643)ctG>ctA	p.L881L	FLT3_ENST00000241453.7_Silent_p.L878L|FLT3_ENST00000537084.1_Silent_p.L837L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	878	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L878L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGATTTCCCACAGTAATATTC	0.552000			"""Mis, O"""		"""AML, ALL"""								14	93					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206872011	206872011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:206872011C>T	ENST00000403263.1	-	10	2319	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E639K(1)|p.E534K(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACTATACCTTCAAAAAAATCA	0.348000													19	41					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375138	101375138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:101375138C>G	ENST00000344327.3	-	2	986	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	TRPC6_ENST00000360497.4_Missense_Mutation_p.E188Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.E188Q|TRPC6_ENST00000348423.4_Missense_Mutation_p.E188Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	188					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E188Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCTTGCCTTCAGCAAAAGCC	0.458000													16	11					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36562497	36562497	+	Missense_Mutation	SNP	A	A	G	rs146229976	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36562497A>G	ENST00000401500.2	+	8	957	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.I308V|WDR62_ENST00000270301.7_Missense_Mutation_p.I308V	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	308					cerebral cortex development	nucleus		p.I308V(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGGAGCTCATCTTCTGTGG	0.592000													7	168					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688666	55688666	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:55688666G>A	ENST00000358433.2	-	1	350	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S117S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCGGTCATAGGACATGGCAG	0.403000													6	11					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337752	126337752	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:126337752C>A	ENST00000394329.3	+	6	7006	c.6993C>A	c.(6991-6993)gtC>gtA	p.V2331V	FAT4_ENST00000335110.5_Silent_p.V629V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2331	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2331V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCGCTTTGTCTTAATGATTA	0.443000													8	33					0.27861	0.27861	1	1	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													3	65					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138645821	138645821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:138645821C>T	ENST00000298480.5	+	5	547	c.473C>T	c.(472-474)tCg>tTg	p.S158L	KCNT1_ENST00000491806.2_Missense_Mutation_p.S125L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S119L|KCNT1_ENST00000263604.3_Missense_Mutation_p.S139L|KCNT1_ENST00000371757.2_Missense_Mutation_p.S158L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S110L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S139L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S139L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	158						membrane	binding|calcium-activated potassium channel activity	p.S158L(1)|p.S158*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TTCAATGACTCGTCCTCCGAG	0.622000													29	66					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926623	67926623	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:67926623G>T	ENST00000304363.4	-	11	1543	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S397Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCAACTGAAGATTTTCGGTT	0.403000													21	51					2.89027e-11	2.99376e-11	1	1	0
PTPN9	5780	broad.mit.edu	37	15	75798059	75798059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:75798059C>G	ENST00000306726.2	-	7	1437	c.925G>C	c.(925-927)Gac>Cac	p.D309H	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	309	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.D309H(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGACGAATGTCTTCATATTCC	0.473000													110	209					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39220017	39220017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39220017G>A	ENST00000252699.2	+	21	2757	c.2681G>A	c.(2680-2682)gGt>gAt	p.G894D	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.G504D|ACTN4_ENST00000390009.3_Missense_Mutation_p.G675D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	894					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.G894D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGTGCCCGGTGCCCTCGAC	0.672000													10	39					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013407	73013407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:73013407C>T	ENST00000308744.6	+	4	1545	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Q381*|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Q384*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	483					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.Q483*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAGCTTGTCCAGGAATCTAC	0.403000													14	31					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178483399	178483399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:178483399C>T	ENST00000355689.5	-	1	295	c.31G>A	c.(31-33)Gac>Aac	p.D11N		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding	p.D11N(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AACTCCCCGTCGGGGATCTGC	0.667000													3	8					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043213	34043213	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:34043213G>T	ENST00000382065.3	-	1	724	c.18C>A	c.(16-18)ctC>ctA	p.L6L	C1QTNF3_ENST00000231338.7_Silent_p.L6L|RP11-1084J3.4_ENST00000382079.3_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0						collagen		p.L6L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCAATAGATGAGCTGCCTCC	0.507000													11	36					3.86212e-05	3.9202e-05	1	1	0
XPNPEP3	63929	broad.mit.edu	37	22	41322359	41322359	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41322359C>G	ENST00000357137.4	+	10	1528	c.1444C>G	c.(1444-1446)Cag>Gag	p.Q482E	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.Q459E	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	482					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	p.Q482E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGTGGTGACTCAGGACTCACC	0.473000													59	120					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663458	99663458	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:99663458C>T	ENST00000373034.4	-	1	1813	c.138G>A	c.(136-138)gcG>gcA	p.A46A	PCDH19_ENST00000420881.2_Silent_p.A46A|PCDH19_ENST00000255531.7_Silent_p.A46A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	46	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A46A(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCGCCTCTCGCGCGTCTTTGG	0.632000													8	8					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34012014	34012014	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34012014C>T	ENST00000382499.2	-	30	3780	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1261K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1206K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E1175K|SYNJ1_ENST00000322229.7_Missense_Mutation_p.E1222K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1222	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.E1222K(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTTGGCTTTCAGGAGTCAGT	0.522000													21	54					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476128	6476128	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:6476128G>C	ENST00000297056.6	-	3	453	c.284C>G	c.(283-285)tCt>tGt	p.S95C	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.S54C|DAGLB_ENST00000425398.2_Missense_Mutation_p.S95C|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	95					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.S95C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AAGCAGCTTAGACATAGACTT	0.517000													104	90					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048519	238048519	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:238048519G>A	ENST00000366570.4	-	9	1415	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	419	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.I419I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAGGTGAAGATGCTGAAGC	0.547000													42	18					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196605504	196605504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:196605504C>G	ENST00000312428.6	-	64	11954	c.11854G>C	c.(11854-11856)Gat>Cat	p.D3952H	DNAH7_ENST00000409063.1_Missense_Mutation_p.D435H|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3952					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D3952H(1)		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						GGCACTGTATCATAAAGAATT	0.289000													18	55					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833013	24833013	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:24833013A>C	ENST00000376451.2	+	14	4123	c.3863A>C	c.(3862-3864)tAt>tCt	p.Y1288S	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.Y1605S|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1605					embryonic skeletal system development	cytoplasm		p.Y1605S(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGGTAGTCTATGAAGAAGAG	0.468000													40	80					0	0	1	0	0
MIF	4282	broad.mit.edu	37	22	24236667	24236667	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:24236667G>A	ENST00000215754.7	+	1	477	c.6G>A	c.(4-6)ccG>ccA	p.P2P	AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron	NM_002415.1	NP_002406.1	P14174	MIF_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	2					cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity	p.P2P(1)		urinary_tract(1)	1						CCATCATGCCGATGTTCATCG	0.687000													30	29					0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	102246348	102246348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:102246348C>T	ENST00000262940.7	-	5	452	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	RASA4_ENST00000462172.1_Missense_Mutation_p.G57R|RASA4_ENST00000461209.1_Missense_Mutation_p.G57R|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000449970.2_Missense_Mutation_p.G129R	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	129	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity	p.G129R(2)		lung(1)|prostate(1)|urinary_tract(1)	3						GCCCGGGCCCCTGGCCACACT	0.687000													3	4					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224919	59224919	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:59224919G>A	ENST00000300127.2	+	1	509	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGTAATTCTGATGCTTCCAT	0.517000													44	78					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38311413	38311413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:38311413C>T	ENST00000553443.1	+	31	5578	c.5578C>T	c.(5578-5580)Cgt>Tgt	p.R1860C	TTC6_ENST00000476979.1_Missense_Mutation_p.R494C|TTC6_ENST00000382320.3_3'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.R494C					tetratricopeptide repeat domain 6									p.R1860C(1)|p.R494C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCAAAAGTTCGTGGTAAAAT	0.348000													22	36					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85701811	85701811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:85701811C>G	ENST00000253458.7	+	14	3372	c.3196C>G	c.(3196-3198)Cct>Gct	p.P1066A	GSE1_ENST00000393243.1_Missense_Mutation_p.P993A|GSE1_ENST00000405402.2_Missense_Mutation_p.P962A	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.P1066A(1)									CTACAACATTCCTGAGCTGCA	0.637000													43	109					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466159	220466159	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220466159C>G	ENST00000456909.1	+	3	354	c.264C>G	c.(262-264)ctC>ctG	p.L88L	STK11IP_ENST00000295641.10_Silent_p.L99L|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	99					protein localization	cytoplasm	protein kinase binding	p.L88L(1)|p.L99L(1)|p.L96L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTTTCACTCAAGGTTCTGG	0.542000													14	31					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													6	38					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96747140	96747140	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:96747140G>A	ENST00000432641.2	+	1	1239	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ACN9_ENST00000360382.4_Silent_p.V35V	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	35					regulation of gluconeogenesis	mitochondrial intermembrane space		p.V35V(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACCAGTACGTGAAAGACGAAT	0.567000													20	55					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41565561	41565561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41565561G>C	ENST00000263253.7	+	26	5446	c.4227G>C	c.(4225-4227)ttG>ttC	p.L1409F	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1409					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.L1409F(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTAAATGCTTGAGGACTGCAG	0.323000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	119					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179023597	179023597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:179023597G>A	ENST00000319449.4	+	13	1558	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.E408K|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.E408K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	516					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E408K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGGGGCTGAGGAGCGGAG	0.617000										HNSCC(44;0.11)			48	123					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80053331	80053331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:80053331G>A	ENST00000306749.2	-	3	363	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	49	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.R49W(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGGACCGCCGGGGCAGGCCG	0.652000													32	29					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666828	150666828	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:150666828C>T	ENST00000335230.3	-	6	1098	c.687G>A	c.(685-687)ctG>ctA	p.L229L	SLC36A3_ENST00000377713.3_Silent_p.L270L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	229						integral to membrane		p.L229L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCAAAGATCAGAGCCATGC	0.517000													17	40					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750864	119750864	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:119750864A>G	ENST00000541757.1	+	17	1563	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	MARCO_ENST00000327097.4_Missense_Mutation_p.K473E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	473	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.K473E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCCTGTACAAAGTGGGAGC	0.557000													53	78					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													4	34					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160582	104160582	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:104160582C>T	ENST00000414303.2	+	2	239	c.175C>T	c.(175-177)Cca>Tca	p.P59S		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	59					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	p.P59S(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GTAGGTCTCTCCACCAAATGA	0.333000													10	45					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9965627	9965627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:9965627G>T	ENST00000295981.3	+	8	1116	c.898G>T	c.(898-900)Gag>Tag	p.E300*	IL17RC_ENST00000383812.4_Nonsense_Mutation_p.E214*|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.E229*|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.E214*|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.E85*|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Nonsense_Mutation_p.E229*	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	300						integral to membrane|plasma membrane	receptor activity	p.E300*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAATGTCTCTGAGGAGCAGCA	0.592000													96	79					4.81362e-53	5.14384e-53	1	1	0
MMP15	4324	broad.mit.edu	37	16	58071406	58071406	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58071406C>G	ENST00000219271.3	+	2	978	c.193C>G	c.(193-195)Cag>Gag	p.Q65E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	65					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.Q65E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CTACCTGCCTCAGCCCAGCCG	0.607000													7	15					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32624470	32624470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:32624470G>C	ENST00000335185.5	-	18	3170	c.3127C>G	c.(3127-3129)Ctc>Gtc	p.L1043V	EIF3M_ENST00000531120.1_3'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	1043								p.L1043V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCGTAATGAGGCTCTGCCAG	0.368000													48	38					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72923775	72923775	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:72923775G>C	ENST00000268489.5	-	4	3975	c.3303C>G	c.(3301-3303)ctC>ctG	p.L1101L	ZFHX3_ENST00000397992.5_Silent_p.L187L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1101					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.L1101L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGATGAGGTTGAGCTTGGCCT	0.572000													12	119					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165121	79165121	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165121C>T	ENST00000269392.4	-	22	2893	c.2646G>A	c.(2644-2646)ctG>ctA	p.L882L	AZI1_ENST00000450824.2_Silent_p.L879L|AZI1_ENST00000374782.3_Silent_p.L843L|AZI1_ENST00000575907.1_Silent_p.L846L	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	882					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.L843L(1)|p.L879L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTCCCGGTTCAGCAGCCACG	0.701000													23	77					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124335198	124335198	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124335198C>A	ENST00000287394.5	-	27	4218	c.4111G>T	c.(4111-4113)Gat>Tat	p.D1371Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D689Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1371Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATGTTTTATCATGGTCCTTG	0.333000													61	116					4.57574e-12	4.75173e-12	1	1	0
FOXM1	2305	broad.mit.edu	37	12	2975580	2975580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:2975580C>G	ENST00000342628.2	-	5	1067	c.954G>C	c.(952-954)ttG>ttC	p.L318F	FOXM1_ENST00000359843.3_Missense_Mutation_p.L318F|FOXM1_ENST00000361953.3_Missense_Mutation_p.L318F|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	318					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	p.L318F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTCCAATGTCAAGTAGCGGT	0.507000													25	76					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91603155	91603155	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:91603155C>T	ENST00000359028.2	+	3	440	c.215C>T	c.(214-216)tCa>tTa	p.S72L	AKAP9_ENST00000358100.2_Missense_Mutation_p.S72L|AKAP9_ENST00000356239.3_Missense_Mutation_p.S60L|AKAP9_ENST00000394564.1_Missense_Mutation_p.S60L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	72					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.S72L(1)|p.S60L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGATCAATCACAGTGTAAT	0.363000			T	BRAF	papillary thyroid								21	35					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109971290	109971290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:109971290G>A	ENST00000342494.3	+	27	3537	c.2942G>A	c.(2941-2943)aGa>aAa	p.R981K	UBE3B_ENST00000535089.1_Missense_Mutation_p.R68K|UBE3B_ENST00000434735.2_Missense_Mutation_p.R981K	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	981	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.R981K(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGCTGCTCCAGACCCCCGCTC	0.642000													58	142					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577222	16577222	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577222C>G	ENST00000375592.3	-	10	2313	c.2097G>C	c.(2095-2097)caG>caC	p.Q699H		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	699								p.Q699H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTTCACATTCTGTTTCTTGT	0.428000													143	177					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139077	64139077	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:64139077C>T	ENST00000545618.1	-	5	954	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZC4H2_ENST00000374839.3_Missense_Mutation_p.E136K|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E113K|ZC4H2_ENST00000447788.2_Intron			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	136							metal ion binding|protein binding	p.E136K(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTCTGCTTCTCAAAGTAACTT	0.532000													22	9					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26459787	26459787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:26459787C>T	ENST00000429381.1	+	3	373	c.161C>T	c.(160-162)tCa>tTa	p.S54L	BTN2A1_ENST00000469185.1_Missense_Mutation_p.S54L|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S54L|BTN2A1_ENST00000541522.1_5'UTR			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	54	Ig-like V-type.				lipid metabolic process	integral to plasma membrane		p.S54L(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCCATCTGTCACCCGAGAAA	0.532000													13	65					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800712	153800712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:153800712C>T	ENST00000368655.4	-	2	355	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	38						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E38K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCATGGCCTCATGCCCCTCC	0.502000													200	330					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126114679	126114679	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114679C>G	ENST00000287437.3	+	3	323	c.107C>G	c.(106-108)tCt>tGt	p.S36C	NSMCE2_ENST00000522563.1_Missense_Mutation_p.S36C	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	36					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	p.S36C(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TGTATCAACTCTGGTATGGAC	0.418000													20	138					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422680	26422680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:26422680C>T	ENST00000335473.7	+	43	6990	c.6740C>T	c.(6739-6741)tCa>tTa	p.S2247L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2247L|MYO18B_ENST00000407587.2_Missense_Mutation_p.S2248L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2247						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.S2248L(1)		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						CCCAGTCCTTCAGCGGCCCTC	0.602000													4	27					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853300	2853300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:2853300G>A	ENST00000334241.4	+	4	1375	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	ZNF555_ENST00000591539.1_Missense_Mutation_p.G412R|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G413R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCCTTTCGAGGACACATGAG	0.473000													4	62					0	0	1	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:102136604C>T	ENST00000465829.1	-	11	1124	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M					RAS p21 protein activator 4B									p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542000													4	90					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10078013	10078013	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:10078013T>G	ENST00000287647.3	+	7	574	c.481T>G	c.(481-483)Ttt>Gtt	p.F161V	FANCD2_ENST00000419585.1_Missense_Mutation_p.F161V|FANCD2_ENST00000431693.1_Missense_Mutation_p.F161V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F161V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F161V|FANCD2_ENST00000438741.1_3'UTR	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	161	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.F161V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCCAGAATATTTTTTTGAAAA	0.333000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	93					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324319	62324319	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:62324319C>G	ENST00000318100.4	+	29	3641	c.2814C>G	c.(2812-2814)ctC>ctG	p.L938L	RTEL1_ENST00000370018.3_Silent_p.L938L|RTEL1_ENST00000370003.1_Silent_p.L183L|RTEL1_ENST00000360203.5_Silent_p.L938L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L938L|RTEL1_ENST00000508582.2_Silent_p.L962L	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	938					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.L938L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCGGCCCCCTCTTTGCTGAGG	0.657000													58	186					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685406	248685406	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:248685406C>T	ENST00000343414.4	+	1	491	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L153L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCGGCCTCATCACCTCCC	0.572000													23	16					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2632715	2632715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:2632715C>T	ENST00000402050.2	+	15	1488	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	IQCE_ENST00000404984.1_Missense_Mutation_p.A384V|IQCE_ENST00000325979.7_Missense_Mutation_p.A370V|IQCE_ENST00000438376.2_Missense_Mutation_p.A419V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	435								p.A435V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ctggagtgcgcgagggagggc	0.602000													34	159					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81388061	81388061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:81388061G>C	ENST00000222390.5	-	3	540	c.314C>G	c.(313-315)tCa>tGa	p.S105*	HGF_ENST00000444829.2_Nonsense_Mutation_p.S105*|HGF_ENST00000453411.1_Nonsense_Mutation_p.S105*|HGF_ENST00000457544.2_Nonsense_Mutation_p.S105*|HGF_ENST00000453018.1_Nonsense_Mutation_p.S2*|HGF_ENST00000354224.6_Nonsense_Mutation_p.S105*|HGF_ENST00000423064.2_Nonsense_Mutation_p.S105*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	105	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.S105*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACTCCACTTGACATGCTATT	0.318000													11	54					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:124380748G>A	ENST00000291478.5	+	12	1387	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	KALRN_ENST00000459915.1_Missense_Mutation_p.M197I|KALRN_ENST00000360013.3_Missense_Mutation_p.M2105I|KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M2105I(1)|p.M408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGACATGATGAATCTAGGAC	0.507000													89	116					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48517148	48517148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:48517148C>T	ENST00000358350.4	-	56	8438	c.7834G>A	c.(7834-7836)Gaa>Aaa	p.E2612K	FRYL_ENST00000503238.1_Missense_Mutation_p.E2612K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2612K|FRYL_ENST00000264319.7_Missense_Mutation_p.E8K|FRYL_ENST00000507873.2_Missense_Mutation_p.E8K	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2612					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.E2612K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGTAACTTTCAGGAGCTAGA	0.423000													23	29					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290639	74290639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74290639G>C	ENST00000565898.1	+	2	508	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	PML_ENST00000359928.4_Missense_Mutation_p.E142Q|PML_ENST00000569477.1_Missense_Mutation_p.E142Q|PML_ENST00000435786.2_Missense_Mutation_p.E142Q|PML_ENST00000436891.3_Missense_Mutation_p.E142Q|PML_ENST00000395135.3_Missense_Mutation_p.E142Q|PML_ENST00000395132.2_Missense_Mutation_p.E142Q|PML_ENST00000354026.6_Missense_Mutation_p.E142Q|PML_ENST00000268059.6_Missense_Mutation_p.E142Q|PML_ENST00000563500.1_Missense_Mutation_p.E142Q|PML_ENST00000564428.1_Missense_Mutation_p.E142Q|PML_ENST00000268058.3_Missense_Mutation_p.E142Q|PML_ENST00000567543.1_Missense_Mutation_p.E142Q|PML_ENST00000569965.1_Missense_Mutation_p.E142Q			P29590	PML_HUMAN	promyelocytic leukemia	142					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E142Q(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CTGGTGCTTTGAGTGCGAGCA	0.637000			T	"""RARA, PAX5"""	"""APL, ALL"""								11	46					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87439902	87439902	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:87439902A>T	ENST00000517970.1	+	11	1495	c.1188A>T	c.(1186-1188)agA>agT	p.R396S	WWP1_ENST00000349423.2_Missense_Mutation_p.R178S|WWP1_ENST00000265428.4_Missense_Mutation_p.R396S|WWP1_ENST00000341922.2_Missense_Mutation_p.R266S	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	396	WW 2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R396S(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATCGTAGAAGAGTTTATTATG	0.373000													55	125					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10391786	10391786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:10391786G>C	ENST00000274140.5	+	7	841	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	MARCH6_ENST00000449913.2_Missense_Mutation_p.E189Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.E132Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	237					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.E237Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ggaggacaatgaggaggaaga	0.562000													23	24					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713588	222713588	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:222713588G>T	ENST00000343410.6	-	4	1272	c.1214C>A	c.(1213-1215)tCt>tAt	p.S405Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	405					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.S405Y(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGGCTCAGAAACAAATGG	0.587000													77	35					1.00246e-47	1.06842e-47	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21762864	21762864	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:21762864G>C	ENST00000206660.6	+	2	114	c.114G>C	c.(112-114)ttG>ttC	p.L38F	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L38F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L38F|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.L38F			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	38					response to stimulus|visual perception	cilium		p.L38F(1)		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)		AACCACCCTTGAGCAGGATGA	0.413000													25	38					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105771	14105771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:14105771C>G	ENST00000590202.1	-	3	920	c.768G>C	c.(766-768)aaG>aaC	p.K256N	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K256N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGTTAATTATCTTATGTCCCT	0.328000													15	10					0	0	1	0	0
CCDC144B	284047	broad.mit.edu	37	17	18498091	18498091	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18498091G>A	ENST00000442583.1	-	0	867																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TAAACAGAGTGAGACAATTCA	0.373000													6	50					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839644	128839644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:128839644C>T	ENST00000310343.9	-	22	5421	c.5422G>A	c.(5422-5424)Gaa>Aaa	p.E1808K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1459K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1459K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1808	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.E1459K(1)|p.E1808K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCCTTTCCTTCTGCCACTGAG	0.567000													61	32					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190738	61190738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:61190738C>G	ENST00000216513.4	-	1	114	c.55G>C	c.(55-57)Gag>Cag	p.E19Q		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	19						nucleus		p.E19Q(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATCCCATTCTCTTGCTTGATG	0.622000													41	62					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103173	13103173	+	Missense_Mutation	SNP	C	C	T	rs141265402		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:13103173C>T	ENST00000228887.1	-	1	145	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.R49Q|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	49						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R49Q(1)|p.R49L(1)		kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTGGATCTTTCGCATGAGGAA	0.552000													37	34					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106082551	106082551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:106082551C>T	ENST00000357242.5	+	8	1391	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.S406F|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	406						intracellular	calcium ion binding|Rab GTPase activator activity	p.S406F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTATTAGTTCTGAGTCTACA	0.348000													18	22					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769075	148769075	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:148769075C>T	ENST00000316286.9	-	3	803	c.531G>A	c.(529-531)acG>acA	p.T177T	ZNF786_ENST00000451334.3_Silent_p.T226T|ZNF786_ENST00000491431.1_Silent_p.T263T			Q8N393	ZN786_HUMAN	zinc finger protein 786	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T262T(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCCTCCCCGTGTGGGCCG	0.682000													12	27					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303274	53303274	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:53303274C>T	ENST00000438150.2	-	2	2558	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	ZNF28_ENST00000457749.2_Silent_p.K608K|ZNF28_ENST00000414252.2_Silent_p.K555K|ZNF28_ENST00000360272.4_Silent_p.K555K			P17035	ZNF28_HUMAN	zinc finger protein 28	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K555K(2)|p.K608K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACTCATTACACTTGTAAGGTT	0.448000													196	98					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484701	43484701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:43484701G>A	ENST00000395891.2	+	11	2535	c.1930G>A	c.(1930-1932)Gcg>Acg	p.A644T	HECW1_ENST00000453890.1_Missense_Mutation_p.A644T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.A623T(1)|p.A644T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCAATGGCGCGGCCCAGGA	0.711000													10	13					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593102	137593102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:137593102C>T	ENST00000371817.3	+	4	991	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	193	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.R193C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATTCCTCGACCGCAGCGACCA	0.517000													25	28					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949408	58949408	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:58949408C>G	ENST00000423743.3	+	22	3248	c.2990C>G	c.(2989-2991)tCa>tGa	p.S997*	KIAA0586_ENST00000354386.6_Nonsense_Mutation_p.S1094*|KIAA0586_ENST00000556134.1_Nonsense_Mutation_p.S1026*|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Nonsense_Mutation_p.S965*	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	965								p.S965*(1)|p.S1094*(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGATGCTTCAACAAATGAA	0.388000													19	39					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247200919	247200919	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:247200919C>A	ENST00000366503.2	-	4	1160	c.1002G>T	c.(1000-1002)gtG>gtT	p.V334V		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V334V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATAAGGTTTCACTCCAGTGT	0.408000													93	126					1.79992e-35	1.90829e-35	1	1	0
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; 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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632000		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)			40	39					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54291545	54291545	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:54291545C>G	ENST00000217515.6	-	3	547	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.E115Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	115	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	p.E115Q(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCTGTGTCCTCATTGCTTCCA	0.333000													34	143					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794481	15794481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:15794481C>T	ENST00000550308.1	+	7	1206	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R276C	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R276C(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGAGCGGCGTCGCACCCTCCC	0.532000													54	118					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79164797	79164797	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164797C>G	ENST00000269392.4	-	23	3109	c.2862G>C	c.(2860-2862)ctG>ctC	p.L954L	AZI1_ENST00000450824.2_Silent_p.L951L|AZI1_ENST00000374782.3_Silent_p.L915L|AZI1_ENST00000575907.1_Silent_p.L918L	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	954					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.L951L(1)|p.L915L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTGGCCCTTCAGCTCCGAGC	0.677000													13	55					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053637	17053637	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:17053637G>A	ENST00000418129.2	+	2	2886	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L	PLCL2_ENST00000396755.2_Silent_p.L807L|PLCL2_ENST00000432376.1_Silent_p.L807L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	933	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L807L(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACAGATCTGAGAGAAAACA	0.383000													5	25					0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36079652	36079652	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:36079652C>T	ENST00000360731.3	+	3	1503	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	CLIC6_ENST00000349499.2_Silent_p.G483G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	501						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.G483G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GGCTGAAAGGCGTTATATTTA	0.438000													52	64					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36624218	36624218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624218C>G	ENST00000249066.6	-	6	722	c.246G>C	c.(244-246)ttG>ttC	p.L82F	APOL2_ENST00000451256.2_Missense_Mutation_p.L194F|APOL2_ENST00000358502.5_Missense_Mutation_p.L82F	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	82					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	p.L82F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GAAACTCTTTCAAAAACCACT	0.507000													41	139					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:5243458C>T	ENST00000256497.4	+	4	840	c.707C>T	c.(706-708)tCt>tTt	p.S236F	EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	236					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.S236F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408000													27	106					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797659	34797659	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:34797659C>G	ENST00000338074.2	+	15	2079	c.1918C>G	c.(1918-1920)Ctg>Gtg	p.L640V	EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.L640V|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L566V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.L531V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L566V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	640					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.L640V(1)|p.L929V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCCGCAGCCTGCCTGAGCT	0.612000													31	64					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126114697	126114697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114697C>T	ENST00000287437.3	+	3	341	c.125C>T	c.(124-126)tCt>tTt	p.S42F	NSMCE2_ENST00000522563.1_Missense_Mutation_p.S42F	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	42					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	p.S42F(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GACACAGCTTCTAGTGTTGCT	0.423000													22	141					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50546633	50546633	+	Missense_Mutation	SNP	G	G	A	rs147590689		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:50546633G>A	ENST00000262794.5	+	4	594	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E151K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E171K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E171K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	171					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.E151K(1)|p.E171K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGGAGCAGCGAAGCCACCTC	0.602000													8	17					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049280	50049280	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:50049280C>T	ENST00000371564.3	-	9	2265	c.2046G>A	c.(2044-2046)aaG>aaA	p.K682K	NFATC2_ENST00000610033.1_Silent_p.K463K|NFATC2_ENST00000609507.1_Silent_p.K463K|NFATC2_ENST00000609943.1_Silent_p.K662K|NFATC2_ENST00000414705.1_Silent_p.K662K|NFATC2_ENST00000396009.3_Silent_p.K682K	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	682					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K682K(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGGCTCCGTCTTGATGGCTG	0.612000													18	93					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577397	16577397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577397C>T	ENST00000375592.3	-	10	2138	c.1922G>A	c.(1921-1923)tGc>tAc	p.C641Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	641								p.C641Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CATGGGCTTGCAGTTCATACT	0.512000													165	188					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825321	121825321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:121825321G>A	ENST00000330540.2	+	4	793	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R220Q|CD86_ENST00000493101.1_Missense_Mutation_p.R114Q|CD86_ENST00000469710.1_Missense_Mutation_p.R144Q	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	226					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.R226Q(1)|p.R226L(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GACAAGACGCGGCTTTTATCT	0.403000													55	66					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64708119	64708119	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:64708119C>G	ENST00000536065.1	-	10	1524		c.e10-1		C11orf85_ENST00000530444.1_Splice_Site|C11orf85_ENST00000301896.5_Splice_Site|C11orf85_ENST00000432175.1_Splice_Site			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85									p.?(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTCCCTATTCTGTTAAAAAG	0.413000													64	59					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766439	109766439	+	Missense_Mutation	SNP	C	C	T	rs147968137	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766439C>T	ENST00000368952.4	-	22	3189	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	MICAL1_ENST00000358577.3_Missense_Mutation_p.E862K|MICAL1_ENST00000358807.3_Missense_Mutation_p.E948K			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	948					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.E948K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TTCACGCCCTCGGCCTCTAGC	0.567000													14	66					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27975200	27975200	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:27975200C>G	ENST00000269033.3	-	13	1459	c.1308G>C	c.(1306-1308)atG>atC	p.M436I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M463I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	436	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M436I(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTGTCTCATGAAGCTTG	0.458000													70	151					0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55461976	55461976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:55461976C>G	ENST00000272317.6	+	5	523	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	RPS27A_ENST00000404735.1_Missense_Mutation_p.L67V|RPS27A_ENST00000402285.3_Missense_Mutation_p.L67V	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	67	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	p.L67V(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						GGAGTCTACTCTTCATCTTGT	0.398000													17	81					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76794444	76794444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:76794444C>T	ENST00000286719.7	-	12	1698	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	448	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.D448N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCATGGGATCACTCCACAGG	0.433000													49	81					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329950	34329950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:34329950C>G	ENST00000522796.1	+	4	2063	c.158C>G	c.(157-159)tCa>tGa	p.S53*	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Nonsense_Mutation_p.S53*			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	53						nucleus	DNA binding	p.S53*(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGATCCATCTCAAAGCATGAA	0.413000													24	115					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:54841756G>T	ENST00000375068.1	+	12	1695	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	MAGED2_ENST00000218439.4_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375058.1_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375060.1_Nonsense_Mutation_p.E403*|MAGED2_ENST00000347546.4_Nonsense_Mutation_p.E470*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.E403*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.E488*			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488								p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557000													36	11					9.62906e-15	1.00769e-14	1	1	0
FANCA	2175	broad.mit.edu	37	16	89805349	89805349	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:89805349G>C	ENST00000389301.3	-	42	4231	c.4201C>G	c.(4201-4203)Ctt>Gtt	p.L1401V	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1402C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1401					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.L1401V(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCAGAAAAAGACGAGCTTTT	0.512000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				70	63					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175335161	175335161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:175335161C>G	ENST00000392552.2	-	4	1221	c.983G>C	c.(982-984)gGa>gCa	p.G328A	GPR155_ENST00000295500.4_Missense_Mutation_p.G328A|GPR155_ENST00000392551.2_Missense_Mutation_p.G328A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	328					intracellular signal transduction|transmembrane transport	integral to membrane		p.G328A(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GATAGCCACTCCTGGTGCTAC	0.358000													15	21					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176815096	176815096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:176815096G>A	ENST00000324417.5	+	7	837	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SLC34A1_ENST00000512593.1_Missense_Mutation_p.R249Q	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	249					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R249Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATCACTCGACTTGTGGTG	0.592000													17	47					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915727	67915727	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67915727G>C	ENST00000358933.5	+	22	3222	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	995					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E995Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACGTGCCCTTGAGACTCGGCA	0.602000													33	101					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100942	27100942	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:27100942T>G	ENST00000359193.2	+	1	111	c.92T>G	c.(91-93)gTg>gGg	p.V31G		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	31					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.V31G(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GTGGGCCGAGTGCACCGCCTG	0.677000													10	56					0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151179852	151179852	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:151179852C>T	ENST00000394123.3	+	10	1174	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	G3BP1_ENST00000543466.1_Silent_p.F161F|G3BP1_ENST00000356245.3_Silent_p.F343F			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	343	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.F343F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ACCAACTCTTCATTGGCAACC	0.418000													26	53					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110829360	110829360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:110829360G>A	ENST00000375820.4	-	34	2862	c.2741C>T	c.(2740-2742)tCa>tTa	p.S914L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	914	Triple-helical region.			S -> K (in Ref. 8; AA sequence).	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.S914L(1)|p.S557L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGTCCTGAGGAGCCCGG	0.587000													18	58					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405328	1405328	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:1405328C>G	ENST00000381312.1	-	3	1297	c.972G>C	c.(970-972)aaG>aaC	p.K324N		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	324	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.K324N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGGCCAGCTTCTTGCTGCGCC	0.721000													9	12					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548477	119548477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:119548477G>A	ENST00000264025.3	-	3	1051	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PVRL1_ENST00000340882.2_Missense_Mutation_p.S174L|PVRL1_ENST00000341398.2_Missense_Mutation_p.S174L|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	174	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.S174L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCATTGGCTGAGGTGCAGGT	0.577000													36	28					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128897	76128897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:76128897C>G	ENST00000296677.4	+	2	671	c.465C>G	c.(463-465)ttC>ttG	p.F155L		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	155					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.F155L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTGGCTTTTTCTATGGCAACA	0.468000													115	294					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538204	38538204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:38538204C>T	ENST00000399017.2	+	33	6435	c.3688C>T	c.(3688-3690)Cca>Tca	p.P1230S	TTC3_ENST00000355666.1_Missense_Mutation_p.P1230S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1230S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1230					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1230S(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCTTCAGCACCAGCTTTTGA	0.428000													7	38					0	0	1	0	0
NIFK	84365	broad.mit.edu	37	2	122486097	122486097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:122486097C>T	ENST00000285814.4	-	5	652	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		194					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.E194K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GAAATACTTTCCGTTTTCTGT	0.274000													14	58					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193532	57193532	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:57193532C>T	ENST00000395123.2	-	3	418	c.114G>A	c.(112-114)aaG>aaA	p.K38K	SLC43A3_ENST00000529554.1_Silent_p.K38K|SLC43A3_ENST00000352187.1_Silent_p.K38K|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.K38K|SLC43A3_ENST00000533524.1_Silent_p.K38K	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	38					transmembrane transport	integral to membrane		p.K38K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AATCTTCATTCTTGAAGACAA	0.552000													61	56					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122972	12122972	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:12122972T>A	ENST00000379388.2	+	4	3276	c.2944T>A	c.(2944-2946)Tgt>Agt	p.C982S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	982					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.C982S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAATTTTACTGTTCTGAGTT	0.428000													37	78					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805357	31805357	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:31805357C>T	ENST00000375454.3	+	1	225	c.15C>T	c.(13-15)ctC>ctT	p.L5L	BPIFA3_ENST00000375452.3_Silent_p.L5L|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	5						extracellular region	lipid binding	p.L5L(1)									TGTGTCCACTCTGGAGGCTCC	0.592000													25	86					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36574043	36574043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36574043G>A	ENST00000401500.2	+	11	1485	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	WDR62_ENST00000270301.7_Missense_Mutation_p.E484K	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	484					cerebral cortex development	nucleus		p.E484K(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGGGAGCGAGAATGGGAC	0.597000													3	36					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37376609	37376609	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:37376609G>A	ENST00000361924.2	+	17	6632	c.6258G>A	c.(6256-6258)aaG>aaA	p.K2086K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.K2108K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2086	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.K2086K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTGCAGAAGAAATACCAGC	0.398000													4	10					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124346190	124346190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124346190C>T	ENST00000287394.5	-	24	3513	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	ATAD2_ENST00000521903.1_Missense_Mutation_p.D454N	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1136N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTTTATCACCAACAAGA	0.413000													25	113					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74764526	74764526	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:74764526C>T	ENST00000358399.3	+	1	144	c.51C>T	c.(49-51)ttC>ttT	p.F17F	GDA_ENST00000376986.1_5'UTR|GDA_ENST00000376989.3_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Silent_p.F17F	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.F17F(4)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAGGGACGTTCGTCCACTCCA	0.697000													6	8					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734529	47734529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:47734529G>C	ENST00000371828.3	-	11	1556	c.1069C>G	c.(1069-1071)Caa>Gaa	p.Q357E	STAU1_ENST00000371792.1_Missense_Mutation_p.Q349E|STAU1_ENST00000340954.7_Missense_Mutation_p.Q351E|STAU1_ENST00000360426.4_Missense_Mutation_p.Q351E|STAU1_ENST00000347458.5_Missense_Mutation_p.Q351E|STAU1_ENST00000371802.1_Missense_Mutation_p.Q357E|STAU1_ENST00000371856.2_Missense_Mutation_p.Q432E	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	432						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.Q432E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGATGTCCTTGACTAACTCCT	0.532000													55	142					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084883	53084883	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084883C>T	ENST00000276480.7	-	10	1221	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D180N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAGAATCATCAATCTTGTCT	0.428000													55	100					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421110	39421110	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39421110G>A	ENST00000221431.6	-	1	426	c.267C>T	c.(265-267)atC>atT	p.I89I	SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Splice_Site_p.I89I|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Splice_Site_p.I89I	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	89					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	p.I89I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCGCACTCACGATCGCGGGCA	0.662000											OREG0025455|OREG0032101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	39	175					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33722264	33722264	+	Silent	SNP	C	C	G	rs142567516		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:33722264C>G	ENST00000358232.6	+	7	672	c.609C>G	c.(607-609)ctC>ctG	p.L203L	ELP2_ENST00000350494.6_Silent_p.L242L|ELP2_ENST00000542824.1_Silent_p.L177L|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000351393.6_Silent_p.L177L|ELP2_ENST00000442325.2_Silent_p.L268L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	203					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.L203L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCTTTCTCTCTGTGGACATG	0.373000													16	85					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155020372	155020372	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155020372C>G	ENST00000295542.1	+	15	1818	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	DCST1_ENST00000423025.2_Silent_p.L549L|DCST1_ENST00000392480.1_Silent_p.L574L|DCST1_ENST00000368419.2_Silent_p.L574L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	574						integral to membrane	zinc ion binding	p.L574L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTACCGACTCCGGAGGGTCA	0.607000													8	76					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39711890	39711890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:39711890G>A	ENST00000395670.3	-	28	4312	c.3893C>T	c.(3892-3894)tCa>tTa	p.S1298L	KIF21A_ENST00000541463.2_Missense_Mutation_p.S1262L|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1278L|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1285L|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1298L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1298					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1285L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCTGAACTGATGTGTTTCC	0.398000													16	96					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52940119	52940119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:52940119C>G	ENST00000267119.5	-	7	1345	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	426	Coil 2.|Rod.						structural molecule activity	p.D426H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATCTCCATGTCCAGGGCCAGC	0.667000													12	86					0	0	1	0	0
C17orf85	55421	broad.mit.edu	37	17	3721711	3721711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:3721711G>A	ENST00000158149.3	-	11	1211	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	C17orf85_ENST00000389005.4_Missense_Mutation_p.R386W			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	386							nucleotide binding	p.R106W(1)|p.R386W(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GACGCGCTCCGCTCCCGGGGC	0.527000													33	93					0	0	1	0	0
NUDT17	200035	broad.mit.edu	37	1	145586854	145586854	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:145586854G>A	ENST00000334513.5	-	7	845	c.834C>T	c.(832-834)gtC>gtT	p.V278V		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	278							hydrolase activity|metal ion binding	p.V278V(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCAGTGCTGACTCTCTCTT	0.547000													294	465					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084982C>T	ENST00000276480.7	-	10	1122	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E147K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378000													64	103					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56671019	56671019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:56671019G>A	ENST00000389934.3	-	15	2590	c.2473C>T	c.(2473-2475)Ccg>Tcg	p.P825S	TEX14_ENST00000349033.5_Missense_Mutation_p.P825S|TEX14_ENST00000240361.8_Missense_Mutation_p.P831S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	831						cytoplasm	ATP binding|protein kinase activity	p.P831S(1)|p.P825S(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAGAGTCGGCAGCTTAAAA	0.408000													4	81					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981310	68981310	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:68981310G>C	ENST00000288368.4	+	12	1659	c.1382G>C	c.(1381-1383)aGa>aCa	p.R461T	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	461	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R461T(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTATATAGATTTCGCTAT	0.348000													24	46					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135302356	135302356	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135302356C>T	ENST00000285968.6	+	27	3723	c.3697C>T	c.(3697-3699)Cat>Tat	p.H1233Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1233					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.H1233Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCAGCTTCTTCATAGGGTTCT	0.403000													14	51					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558048	140558048	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140558048G>A	ENST00000239444.2	+	1	678	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		145	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E145K(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGTATCAGAGAGCAGTCC	0.418000													49	267					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73590051	73590051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:73590051G>C	ENST00000326291.6	+	18	2606	c.2268G>C	c.(2266-2268)aaG>aaC	p.K756N	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	756						centrosome		p.K756N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAGATGAAGACCTAGTGTT	0.348000													11	45					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37020905	37020905	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:37020905G>A	ENST00000282516.8	+	27	5753	c.5254G>A	c.(5254-5256)Gat>Aat	p.D1752N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D1752N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1752					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.D1752N(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACTATGATGATGCTTGCTT	0.348000													56	208					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394842	10394842	+	Missense_Mutation	SNP	G	G	C	rs139628843		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:10394842G>C	ENST00000264832.3	+	4	1096	c.771G>C	c.(769-771)caG>caC	p.Q257H	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.Q35H	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	257	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.Q257H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGGGGACCAGAGGTTGAACC	0.657000													6	75					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127522	170127522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:170127522C>T	ENST00000263816.3	-	16	2497	c.2212G>A	c.(2212-2214)Ggg>Agg	p.G738R	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	738					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	p.G738R(1)		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)	GAAGGATTCCCCGAAACTGGA	0.408000													6	27					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140707937	140707937	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:140707937C>T	ENST00000460843.1	+	21	3162	c.3135C>T	c.(3133-3135)tgC>tgT	p.C1045C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1045					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.C1014C(1)|p.C1045C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAACTGCGTGACGTCCC	0.582000													10	30					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351840	123351840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:123351840C>T	ENST00000267202.2	-	4	1062	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	227	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.M227I(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTCCCGAACTCATGGCCGCAG	0.692000													6	12					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085601	139085601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:139085601C>T	ENST00000333188.5	-	15	1874	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S	COPB2_ENST00000507777.1_Missense_Mutation_p.G536S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	565					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.G565S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GGAATGTAGCCTAGGAGATAC	0.413000													5	26					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11868313	11868313	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:11868313G>A	ENST00000396516.2	-	8	879	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	228						nucleus	nucleic acid binding|zinc ion binding	p.H228Y(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCAACTTCATGAGAAAAACTG	0.458000													48	69					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810631	38810631	+	Silent	SNP	T	T	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:38810631T>C	ENST00000359357.3	+	33	4400	c.4146T>C	c.(4144-4146)ctT>ctC	p.L1382L	DNAH8_ENST00000449981.2_Silent_p.L1599L|DNAH8_ENST00000441566.1_Silent_p.L1382L					dynein, axonemal, heavy chain 8									p.L1382L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTTTGCCTTAGAAATATCA	0.373000													6	52					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42712930	42712930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42712930C>G	ENST00000244625.2	-	2	1445	c.882G>C	c.(880-882)tgG>tgC	p.W294C	TBCC_ENST00000372876.1_Missense_Mutation_p.W294C			Q15814	TBCC_HUMAN	tubulin folding cofactor C	294	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.W294C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCGGGTAGCTCCAGGTGTAAG	0.537000													48	126					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828819	22828819	+	Missense_Mutation	SNP	C	C	G	rs147907060	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828819C>G	ENST00000404138.1	+	6	1563	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	ZBTB40_ENST00000375647.4_Missense_Mutation_p.S351C|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	351					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S351C(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGACCTTGTCTGTTCTGTTA	0.453000													11	17					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71833917	71833917	+	Silent	SNP	G	G	A	rs147257938		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:71833917G>A	ENST00000266674.5	+	1	368	c.57G>A	c.(55-57)gcG>gcA	p.A19A	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Silent_p.A19A|LGR5_ENST00000536515.1_Silent_p.A19A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	19						integral to plasma membrane	protein-hormone receptor activity	p.A19A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCAGCTGGCGACCGGGGGCA	0.682000													20	42					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2130935	2130935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:2130935G>A	ENST00000511885.2	-	18	2191	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	POLN_ENST00000382865.1_Missense_Mutation_p.S613L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	613					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.S613L(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCCTTTGGATGAAACAAACAT	0.398000								DNA polymerases (catalytic subunits)					22	63					0	0	1	0	0
SARNP	84324	broad.mit.edu	37	12	56188642	56188642	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:56188642C>T	ENST00000444631.2	-	5	299	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	SARNP_ENST00000552080.1_Missense_Mutation_p.R109Q|SARNP_ENST00000336133.3_Missense_Mutation_p.R109Q|RP11-762I7.5_ENST00000546837.1_Silent_p.T421T					SAP domain containing ribonucleoprotein									p.R109Q(1)		breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TACATTGAATCGTTCAGCCCT	0.428000													11	20					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713214	42713214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713214C>G	ENST00000244625.2	-	2	1161	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TBCC_ENST00000372876.1_Missense_Mutation_p.E200Q			Q15814	TBCC_HUMAN	tubulin folding cofactor C	200	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.E200Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGTGCAACTCGCTGGCTCTC	0.602000													23	34					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46940250	46940250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:46940250C>G	ENST00000313049.5	+	7	940	c.737C>G	c.(736-738)tCt>tGt	p.S246C	PTH1R_ENST00000430002.2_Missense_Mutation_p.S246C|PTH1R_ENST00000449590.1_Missense_Mutation_p.S246C|PTH1R_ENST00000418619.1_Missense_Mutation_p.S246C			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	246						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	p.S246C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GTGCTCTACTCTGGCGCCACG	0.677000													24	21					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37163891	37163891	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:37163891C>T	ENST00000340630.5	-	2	492	c.47G>A	c.(46-48)gGc>gAc	p.G16D	IFT27_ENST00000433985.2_Missense_Mutation_p.G17D|IFT27_ENST00000453009.2_5'UTR	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	17					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	p.G16D(1)		endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGGTCTTGCCCACTGCTGG	0.507000													6	343					0	0	1	0	0
CGB7	94027	broad.mit.edu	37	19	49558233	49558233	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:49558233G>A	ENST00000597853.1	-	4	2919	c.48C>T	c.(46-48)ggC>ggT	p.G16G	CGB7_ENST00000596965.1_Silent_p.G16G|CGB7_ENST00000377280.3_Silent_p.G16G|CGB7_ENST00000356213.4_Silent_p.G14G					chorionic gonadotropin, beta polypeptide 7									p.G16G(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCATGTCCCGCCCATGCTCA	0.667000													61	25					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20874759	20874759	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:20874759C>G	ENST00000380249.1	+	21	2634	c.2270C>G	c.(2269-2271)tCt>tGt	p.S757C	FOCAD_ENST00000605086.1_Missense_Mutation_p.S193C|FOCAD_ENST00000338382.6_Missense_Mutation_p.S757C|FOCAD_ENST00000604828.1_3'UTR	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	757						integral to membrane	binding	p.S757C(1)									GTTCCTGGCTCTTGCTATCTC	0.408000													23	22					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674863	94674863	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94674863G>A	ENST00000260526.6	-	4	566	c.384C>T	c.(382-384)ctC>ctT	p.L128L	ARHGAP29_ENST00000370217.3_Silent_p.L128L	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	128					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.L128L(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTCCTGGAAGAGATCGTTTT	0.323000													15	31					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156497752	156497752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:156497752G>A	ENST00000361170.2	-	37	4784	c.4774C>T	c.(4774-4776)Cac>Tac	p.H1592Y		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1592					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.H1592Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTGATAGTGAAGCTGAAAT	0.527000													50	51					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127393	45127393	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:45127393G>A	ENST00000575173.1	-	0	418																											AAAGTTATCTGAGTAGACTGA	0.463000													22	251					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30882669	30882669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:30882669C>T	ENST00000321897.5	+	1	688	c.56C>T	c.(55-57)tCa>tTa	p.S19L	VARS2_ENST00000541562.1_Missense_Mutation_p.S49L|VARS2_ENST00000542001.1_Intron|VARS2_ENST00000416670.2_Missense_Mutation_p.S19L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	19					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.S19L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAGGCACTCACGGGGCCTC	0.572000													55	101					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59502740	59502740	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:59502740G>A	ENST00000288235.4	-	13	1734	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	445	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGTCACATACGATTTTATTAT	0.348000													19	128					0	0	1	0	0
SLC25A15	10166	broad.mit.edu	37	13	41379289	41379289	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:41379289C>A	ENST00000338625.4	+	4	586	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	117					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.S117Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TCCTTCGCCTCTGCCTTTGCT	0.552000													31	36					9.57592e-29	1.0126e-28	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184379	130184379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:130184379G>C	ENST00000422113.2	-	2	1270	c.944C>G	c.(943-945)tCc>tGc	p.S315C		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	315						integral to membrane		p.S315C(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTCAGTGGAATTTCTGGA	0.493000													23	80					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027048	55027048	+	Silent	SNP	C	C	G	rs143746875		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:55027048C>G	ENST00000371336.3	+	5	1017	c.816C>G	c.(814-816)ctC>ctG	p.L272L	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.L272L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	272					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.L272L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCCACGCTCTCCCCAGTTCCA	0.517000													33	49					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:25886754G>T	ENST00000376351.3	+	11	2558	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	733						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M733I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGATGATCACAAACA	0.448000													14	31					0.000151284	0.000152794	1	1	0
RNF216	54476	broad.mit.edu	37	7	5781044	5781044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:5781044C>T	ENST00000425013.2	-	4	657	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RNF216_ENST00000389902.3_Missense_Mutation_p.E202K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	145					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E202K(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCTGAGTCTTCGGATGACTGG	0.453000													76	373					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103183210	103183210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:103183210C>G	ENST00000428762.1	-	43	6798	c.6639G>C	c.(6637-6639)ttG>ttC	p.L2213F	RELN_ENST00000343529.5_Missense_Mutation_p.L2213F|RELN_ENST00000424685.2_Missense_Mutation_p.L2213F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2213					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L2213F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCGTGTCATCAACATGCGCA	0.363000													22	70					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919969	97919969	+	RNA	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:97919969G>C	ENST00000534948.1	+	0	4747							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1297T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACATTGCATAGAAAGTGTAAA	0.383000													3	6					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22449100	22449100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:22449100G>A	ENST00000334304.5	-	5	777	c.508C>T	c.(508-510)Caa>Taa	p.Q170*	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Nonsense_Mutation_p.Q170*	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	170					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.Q170*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAAGTTCCTTGAGATAATGAA	0.249000													12	30					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81194452	81194452	+	RNA	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:81194452C>A	ENST00000533478.1	-	0	1591				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.S1179I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCTTCAGGACTGGTCAGGTT	0.552000													9	32					4.68919e-08	4.82011e-08	1	1	0
BMPER	168667	broad.mit.edu	37	7	34192756	34192756	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:34192756C>G	ENST00000297161.2	+	16	2303	c.1929C>G	c.(1927-1929)atC>atG	p.I643M	BMPER_ENST00000426693.1_Missense_Mutation_p.I643M	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	643	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.I643M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGGGATGTATCAAGACGTGTG	0.507000													55	83					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153519641	153519641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:153519641C>T	ENST00000410080.1	-	20	2675	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	739					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.E712K(1)|p.E608K(1)|p.E739K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTCCGAGCCTCTTCTTTTTCT	0.348000													10	16					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468223	10468223	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:10468223C>G	ENST00000382483.3	-	4	3608	c.3385G>C	c.(3385-3387)Gag>Cag	p.E1129Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1129					intracellular signal transduction			p.E1129Q(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCTTCCTCAAATAACTGC	0.602000													56	41					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830487	61830487	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:61830487C>G	ENST00000280772.2	-	37	10343	c.10152G>C	c.(10150-10152)caG>caC	p.Q3384H	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q3384H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTTCCCATTCTGGGCAATTT	0.463000													13	41					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639446	6639446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6639446C>G	ENST00000333172.6	+	6	2521	c.2328C>G	c.(2326-2328)ttC>ttG	p.F776L	TAS1R1_ENST00000351136.3_Missense_Mutation_p.F522L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	776					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.F776L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGATCGCCTTCTTCACCACGG	0.577000													23	78					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46608758	46608758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:46608758G>A	ENST00000263734.3	+	13	2579	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	690					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R690Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGGGGCTCGAGGCCCAGAC	0.597000													24	62					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401089	85401089	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:85401089C>T	ENST00000258888.5	+	6	3893	c.3726C>T	c.(3724-3726)ctC>ctT	p.L1242L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1242					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1242L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCGCCGCCTCACCGGCCTCC	0.692000													8	17					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698327	17698327	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:17698327G>C	ENST00000399080.2	-	1	1379	c.1356C>G	c.(1354-1356)atC>atG	p.I452M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	452								p.I452M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCATTGATGACTTTTG	0.313000													27	41					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46250443	46250443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:46250443G>C	ENST00000336378.4	+	15	1418	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	FAM21C_ENST00000359860.4_Missense_Mutation_p.E378Q|FAM21C_ENST00000540872.1_Missense_Mutation_p.E434Q|FAM21C_ENST00000537517.1_Missense_Mutation_p.E410Q|FAM21C_ENST00000374362.2_Missense_Mutation_p.E434Q	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	434								p.E433Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACAGAAGCCTGAGCAGCCCAC	0.552000													8	25					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16001184	16001184	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:16001184G>A	ENST00000221700.6	-	6	680	c.585C>T	c.(583-585)atC>atT	p.I195I	CYP4F2_ENST00000011989.7_Silent_p.I46I	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.I195I(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGAGGCTGATGTGCTCAA	0.542000													68	69					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41459119	41459119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:41459119C>T	ENST00000400454.1	-	22	4423	c.3946G>A	c.(3946-3948)Gca>Aca	p.A1316T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1316	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A1316T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTTGACTGCAGGAGAAGGG	0.473000													23	67					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996532	4996532	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:4996532C>T	ENST00000380051.2	-	6	726	c.682G>A	c.(682-684)Gag>Aag	p.E228K	RPP40_ENST00000464646.1_Missense_Mutation_p.E168K|RPP40_ENST00000319533.5_Missense_Mutation_p.E205K	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	228					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.E228K(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGCGTTCCCTCCAGCTCGCTG	0.557000													43	84					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533316	94533316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:94533316G>A	ENST00000433060.2	+	3	1101	c.960G>A	c.(958-960)atG>atA	p.M320I	AMOTL1_ENST00000317829.8_Missense_Mutation_p.M270I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.M320I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	320						cytoplasm|tight junction	identical protein binding	p.M320fs*36(1)|p.M320I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAAGCAAATGATGTCCCCAG	0.602000													45	106					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405833	94405833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:94405833G>A	ENST00000555019.1	-	8	1668	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	ASB2_ENST00000315988.4_Missense_Mutation_p.S365F|ASB2_ENST00000556337.1_5'UTR	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	365					intracellular signal transduction			p.S365F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTACAGCGCGGAGCTGCGCCG	0.687000													6	22					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337636	13337636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:13337636G>T	ENST00000380622.2	-	1	882	c.418C>A	c.(418-420)Cca>Aca	p.P140T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	140	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.P140T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTAATTCTGGACCCGCCAAG	0.333000													14	7					6.31663e-08	6.47654e-08	1	1	0
PDLIM2	64236	broad.mit.edu	37	8	22442667	22442667	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:22442667C>T	ENST00000265810.4	+	4	568	c.453C>T	c.(451-453)atC>atT	p.I151I	PDLIM2_ENST00000397760.4_Silent_p.I151I|PDLIM2_ENST00000409141.1_Silent_p.I151I|PDLIM2_ENST00000409417.1_Silent_p.I151I|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Silent_p.I151I|PDLIM2_ENST00000339162.7_Silent_p.I151I|PDLIM2_ENST00000308354.7_Silent_p.I401I	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	151	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	p.I401I(1)|p.I151I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGCAGCCATCAGCCGCAGGT	0.662000													26	21					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576496	90576496	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:90576496G>A	ENST00000551025.1	+	0	4924							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.E1163K(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGATAGTGATGAAGGCAAACT	0.328000													5	24					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671728	99671728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:99671728G>A	ENST00000336292.6	+	5	3280	c.3160G>A	c.(3160-3162)Gga>Aga	p.G1054R	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.G769R|SYNM_ENST00000328642.7_Missense_Mutation_p.G1054R	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1055	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.G1054R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGAGGAAGGTGGAGCGGAGGC	0.652000													12	21					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337581	104337581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:104337581G>A	ENST00000358755.4	+	4	1564	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FZD6_ENST00000540287.1_Missense_Mutation_p.R111Q|FZD6_ENST00000522566.1_Missense_Mutation_p.R416Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R384Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	416					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R416Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTATGATTCGAATTGGAGTC	0.403000													18	88					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246064	33246064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:33246064G>C	ENST00000451237.1	+	1	1148	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	290					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.E290Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTCCCATTAGAGGATGTCTT	0.622000													27	156					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410611	20410611	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20410611G>A	ENST00000302451.4	-	2	260	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	4					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.L4L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGGGCATCCAGAGTAGGTCCA	0.592000													21	82					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124110421	124110421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:124110421G>C	ENST00000286713.2	-	6	549	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	STOM_ENST00000538954.1_Missense_Mutation_p.L127V|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	178					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	p.L178V(1)		endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GCATCATCCAGAGTAGACTGT	0.502000													39	21					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162725538	162725538	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:162725538A>G	ENST00000367922.3	+	8	1088	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	DDR2_ENST00000367921.3_Missense_Mutation_p.Y217C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y217C(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATTCTGTCTATGATGGAGCT	0.403000													35	28					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1206715	1206715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:1206715A>C	ENST00000382952.3	-	9	1476	c.1092T>G	c.(1090-1092)aaT>aaG	p.N364K	CTBP1_ENST00000290921.6_Missense_Mutation_p.N375K	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	375					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	p.N375K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGGCAGCCCCATTGAGCTCAG	0.667000													7	46					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165108	79165108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165108C>T	ENST00000269392.4	-	22	2906	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	AZI1_ENST00000450824.2_Missense_Mutation_p.E884K|AZI1_ENST00000374782.3_Missense_Mutation_p.E848K|AZI1_ENST00000575907.1_Missense_Mutation_p.E851K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	887					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E884K(1)|p.E848K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCTCAGCTCCTGTTCCCGG	0.677000													33	94					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29115398	29115398	+	RNA	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:29115398C>G	ENST00000564580.1	+	0	1363				CTB-134H23.3_ENST00000562618.1_RNA														p.S452*(1)									GTTGACAGGTCAAAGAAATTC	0.363000													34	120					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31614067	31614067	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:31614067G>C	ENST00000399332.1	-	16	3065	c.2577C>G	c.(2575-2577)ctC>ctG	p.L859L	HECTD1_ENST00000553700.1_Silent_p.L859L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	859					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.L859L(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTATGTTTCTGAGTGTTACCA	0.358000													24	21					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78118038	78118038	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:78118038C>G	ENST00000269349.3	-	2	396	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	59					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.E59Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GATGGTTTTTCAAAACCTGCA	0.468000													7	70					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50921177	50921177	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:50921177C>G	ENST00000440232.2	+	27	3350	c.3297C>G	c.(3295-3297)ttC>ttG	p.F1099L	CTD-2545M3.6_ENST00000599632.1_Intron|POLD1_ENST00000595904.1_Missense_Mutation_p.F1125L|POLD1_ENST00000599857.1_Missense_Mutation_p.F1099L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1099					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.F1099L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCGGCGCTTCGGACCCCCTG	0.622000								DNA polymerases (catalytic subunits)					8	11					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269243	63269243	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:63269243C>G	ENST00000322893.7	-	9	1894	c.1626G>C	c.(1624-1626)cgG>cgC	p.R542R	KCNH5_ENST00000420622.2_Silent_p.R542R|KCNH5_ENST00000394968.1_Silent_p.R484R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R542R(1)|p.R484R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAAAAACCTTCCGGTTTAGAT	0.493000													4	11					0	0	1	0	0
ANKRD40	91369	broad.mit.edu	37	17	48776867	48776867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:48776867G>C	ENST00000285243.6	-	3	940	c.671C>G	c.(670-672)cCg>cGg	p.P224R		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	224	Pro-rich.							p.P224Q(1)|p.P224R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGCTTGGACGGGACAGAAGA	0.527000													27	94					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121732608	121732608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:121732608G>C	ENST00000452319.1	+	9	1351	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	GLI2_ENST00000361492.4_Missense_Mutation_p.E431Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E103Q			P10070	GLI2_HUMAN	GLI family zinc finger 2	431					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E431Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAGGAGGCTGAGGTGGTCAT	0.577000													34	59					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139380150	139380150	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:139380150C>T	ENST00000395297.1	-	2	247	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	26								p.G26E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATACTTACCCTCTCTGAAA	0.393000										HNSCC(54;0.14)			7	88					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100379088	100379088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:100379088G>C	ENST00000294724.4	+	30	4433	c.3955G>C	c.(3955-3957)Gct>Cct	p.A1319P	AGL_ENST00000361522.4_Missense_Mutation_p.A1302P|AGL_ENST00000370163.3_Missense_Mutation_p.A1319P|AGL_ENST00000370161.2_Missense_Mutation_p.A1303P|AGL_ENST00000361915.3_Missense_Mutation_p.A1319P|AGL_ENST00000370165.3_Missense_Mutation_p.A1319P|AGL_ENST00000361302.3_Missense_Mutation_p.A1303P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1319					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.A1319P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTCAGGAAAGGCTATAAAGGT	0.294000													8	25					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178942564	178942564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:178942564G>C	ENST00000263967.3	+	16	2528	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	791					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E791Q(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATCATGTCAGAGTTACTGTT	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	23					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													6	200					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828866	22828866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828866C>T	ENST00000404138.1	+	6	1610	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.Q367*|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	367					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q367*(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGTGTAACACAGCTGAGACC	0.488000													20	20					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40457435	40457435	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:40457435G>A	ENST00000301825.3	+	7	820	c.702G>A	c.(700-702)aaG>aaA	p.K234K	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.K234K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.K234K	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	234						integral to membrane	ATP binding|hydrolase activity	p.K234K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGGAGAGAAGATGGATCTGA	0.562000													9	22					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	42995022	42995022	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:42995022A>T	ENST00000294973.6	-	8	732	c.677T>A	c.(676-678)gTg>gAg	p.V226E		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	226	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.V226E(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CCACACGTCCACATTCTGTCT	0.632000													50	58					0	0	1	0	0
C1D	10438	broad.mit.edu	37	2	68273488	68273488	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:68273488A>T	ENST00000355848.3	-	3	240	c.193T>A	c.(193-195)Tca>Aca	p.S65T	C1D_ENST00000409302.1_Missense_Mutation_p.S65T|C1D_ENST00000407324.1_Missense_Mutation_p.S104T|C1D_ENST00000410067.3_Missense_Mutation_p.S65T			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	65	Interaction with NR1D1 (By similarity).|Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	p.S65T(1)		lung(2)|urinary_tract(1)	3						CAAAACATTGAATTTAATGTG	0.299000													13	25					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117746802	117746802	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:117746802A>G	ENST00000368508.3	-	1	216	c.18T>C	c.(16-18)tgT>tgC	p.C6C	ROS1_ENST00000368507.3_Silent_p.C6C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	6					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.C6C(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCGGAATAAGACAGTAAATGT	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	54					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443912	150443912	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:150443912G>T	ENST00000401000.4	+	10	2475	c.2410G>T	c.(2410-2412)Gat>Tat	p.D804Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.D804Y|RPRD2_ENST00000369068.4_Missense_Mutation_p.D830Y|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	830	Ser-rich.						protein binding	p.D830Y(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTCCAAGAAGATGAGGATTA	0.448000													4	125					0.150653	0.151026	1	1	0
RCAN2	10231	broad.mit.edu	37	6	46214588	46214588	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:46214588G>C	ENST00000371374.1	-	4	659	c.468C>G	c.(466-468)ctC>ctG	p.L156L	RCAN2_ENST00000306764.7_Silent_p.L156L|RCAN2_ENST00000330430.6_Silent_p.L110L|RCAN2_ENST00000405162.1_Silent_p.L156L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	110					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.L110L(1)|p.L156L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGGGCGAGATGAGAAACTGTT	0.522000													5	23					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945759	7945759	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7945759T>A	ENST00000229307.4	+	2	584	c.365T>A	c.(364-366)cTc>cAc	p.L122H	NANOG_ENST00000526286.1_Missense_Mutation_p.L122H	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	122					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L122H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TACCTCAGCCTCCAGCAGATG	0.443000													30	28					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713073	42713073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713073C>G	ENST00000244625.2	-	2	1302	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	TBCC_ENST00000372876.1_Missense_Mutation_p.E247Q			Q15814	TBCC_HUMAN	tubulin folding cofactor C	247	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.E247Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGCAGTCCTCCAGGAAAACA	0.592000													35	85					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123726	11123726	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:11123726C>T	ENST00000358026.2	+	16	2660	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	SMARCA4_ENST00000590574.1_Silent_p.L792L|SMARCA4_ENST00000413806.3_Silent_p.L792L|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000541122.2_Silent_p.L792L|SMARCA4_ENST00000589677.1_Silent_p.L792L|SMARCA4_ENST00000450717.3_Silent_p.L792L|SMARCA4_ENST00000444061.3_Silent_p.L792L|SMARCA4_ENST00000429416.3_Silent_p.L792L|SMARCA4_ENST00000344626.4_Silent_p.L792L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	792	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.L792L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATCGCGCTCATCACGTACC	0.582000			"""F, N, Mis"""		NSCLC								31	31					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085754	5085754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:5085754C>G	ENST00000399604.4	-	1	1938	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.E600Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E600Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCCCACATTCTTTGCATTCA	0.408000													175	136					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21334411	21334411	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:21334411G>A	ENST00000399167.2	+	19	1995	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V	AIFM3_ENST00000399163.2_Silent_p.V585V|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.V585V|AIFM3_ENST00000405089.1_Silent_p.V591V|AIFM3_ENST00000440238.2_Silent_p.V585V|AIFM3_ENST00000335375.5_Silent_p.V573V|LZTR1_ENST00000479606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3									p.V585V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCGGGAGGTGGAGTGAGTGT	0.642000													16	21					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68043123	68043123	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:68043123C>G	ENST00000329153.5	+	17	2496	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	788	PH 2.					cytoskeleton	binding	p.L827L(1)|p.L788L(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATACGTGGCTCTACCACCTCA	0.582000													9	27					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35386232	35386232	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:35386232C>T	ENST00000378495.3	+	23	3011	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	UNC13B_ENST00000396787.1_Missense_Mutation_p.S942F|UNC13B_ENST00000378496.4_Missense_Mutation_p.S930F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	930					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.S930F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTTTGAACTCCACATATGAA	0.493000													27	16					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20511319	20511319	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:20511319C>A	ENST00000361078.2	-	4	476	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PUM2_ENST00000338086.5_Missense_Mutation_p.D152Y|PUM2_ENST00000536417.1_Missense_Mutation_p.D96Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D152Y|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.D152Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	152	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.D152Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGAATCATCATCATCTCCT	0.378000													33	65					6.00712e-18	6.30281e-18	1	1	0
CADPS	8618	broad.mit.edu	37	3	62423823	62423823	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:62423823G>A	ENST00000383710.4	-	28	4082	c.3733C>T	c.(3733-3735)Cgt>Tgt	p.R1245C	CADPS_ENST00000283269.9_Missense_Mutation_p.R1206C|CADPS_ENST00000357948.3_Missense_Mutation_p.R1166C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1245	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.R1245C(1)|p.R1206C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCTTATCACGCAGGACATCC	0.448000													4	32					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139250	154139250	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:154139250G>A	ENST00000389740.2	-	3	1300	c.1201C>T	c.(1201-1203)Cta>Tta	p.L401L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	401						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L401L(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAATGATAGATTGAATTCA	0.284000													5	10					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811504	1811504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:1811504C>A	ENST00000539485.1	-	2	465	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	ATP8B3_ENST00000526092.2_Nonsense_Mutation_p.E25*|ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.E78*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.E25*			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	78					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E78*(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGTCTCCATTCATACTTCCTA	0.667000													3	16					0.115264	0.115836	1	1	0
NF2	4771	broad.mit.edu	37	22	30079015	30079015	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:30079015G>A	ENST00000361452.4	+	15	2003	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	NF2_ENST00000397789.3_Missense_Mutation_p.A582T|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.A540T|NF2_ENST00000334961.7_Missense_Mutation_p.A499T|NF2_ENST00000403435.1_Missense_Mutation_p.A553T|NF2_ENST00000338641.4_Intron|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.A582T|NF2_ENST00000353887.4_Missense_Mutation_p.A499T|NF2_ENST00000403999.3_Missense_Mutation_p.A582T	NM_181829.2|NM_181830.2	NP_861967.1|NP_861968.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	582					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.A582T(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTAGCCTCAAGCCCAAGGCAG	0.443000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				105	177					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231959	7231959	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:7231959C>T	ENST00000379938.2	+	10	4164	c.3627C>T	c.(3625-3627)gcC>gcT	p.A1209A	RREB1_ENST00000379933.3_Silent_p.A1209A|RREB1_ENST00000334984.6_Silent_p.A1209A|RREB1_ENST00000349384.6_Silent_p.A1209A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1209					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.A1209A(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGAGGTGGCCGGAGCCCCTG	0.602000													18	28					0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26772917	26772917	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:26772917A>T	ENST00000360009.2	+	5	511	c.434A>T	c.(433-435)tAc>tTc	p.Y145F	DHDDS_ENST00000427245.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000374185.3_Missense_Mutation_p.Y145F|DHDDS_ENST00000236342.7_Missense_Mutation_p.Y145F|DHDDS_ENST00000525682.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000526219.1_Intron	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	145							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	p.Y145F(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACGAAGAACTACAACAAGTAA	0.512000													69	90					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11773124	11773124	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:11773124G>A	ENST00000381486.2	+	28	5226	c.4926G>A	c.(4924-4926)gtG>gtA	p.V1642V	GREB1_ENST00000396123.1_Silent_p.V640V|GREB1_ENST00000234142.5_Silent_p.V1642V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1642						integral to membrane		p.V1642V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTCATTGTGATCTCTGATG	0.562000													47	74					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26875357	26875357	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:26875357G>A	ENST00000381340.3	-	5	914	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ITPR2_ENST00000242737.5_Silent_p.F166F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	166	MIR 1.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.F166F(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCAGTTTCCAGAACGGATGAA	0.388000													10	21					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40134032	40134032	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:40134032C>G	ENST00000181839.4	+	14	4597	c.3992C>G	c.(3991-3993)tCc>tGc	p.S1331C	CDK13_ENST00000340829.5_Missense_Mutation_p.S1271C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1331					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S1331C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACTTACGTGTCCACTTCAGAC	0.483000													73	52					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66584022	66584022	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:66584022G>C	ENST00000299697.7	-	1	293	c.69C>G	c.(67-69)gtC>gtG	p.V23V	Y_RNA_ENST00000563151.1_lincRNA|TK2_ENST00000527284.1_Intron|TK2_ENST00000545043.2_5'UTR|TK2_ENST00000451102.2_5'UTR|TK2_ENST00000544898.1_5'UTR|TK2_ENST00000417693.3_5'UTR	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	0					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	p.V23V(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CGGCGCGGACGACTGCTAGTC	0.682000													17	16					0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44839364	44839364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:44839364G>A	ENST00000468812.1	+	4	298	c.253G>A	c.(253-255)Gat>Aat	p.D85N	PPIA_ENST00000355968.6_Missense_Mutation_p.D25N|PPIA_ENST00000489459.1_Missense_Mutation_p.D25N|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.D85N	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	85	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	p.D85N(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GAAATTTGAAGATGAGAACTT	0.458000													9	252					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991184	152991184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:152991184G>A	ENST00000218104.3	+	1	862	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	155	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.E155K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTACCTGGAGGGCCAACT	0.642000													31	7					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135263632	135263632	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135263632G>A	ENST00000285968.6	+	7	1037	c.1011G>A	c.(1009-1011)ttG>ttA	p.L337L	NUP205_ENST00000440390.2_Silent_p.L131L	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	337					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L337L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CGCTGGCATTGAGGGGAATAT	0.448000													12	32					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20430712	20430712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20430712C>G	ENST00000331849.4	+	4	725	c.578C>G	c.(577-579)tCa>tGa	p.S193*	ACSM5_ENST00000575584.1_Nonsense_Mutation_p.S193*	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	193					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S193*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCTGGTGTCAGACAGCAGT	0.557000													19	27					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32924939	32924939	+	Silent	SNP	C	C	T	rs138034081		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32924939C>T	ENST00000358763.2	-	11	1394	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	SYN3_ENST00000332840.5_Silent_p.L384L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	384	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.L384L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTCGGCCATCAGCTGTCTGT	0.592000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	83					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:4945714G>A	ENST00000345988.2	-	10	1065	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	PPL_ENST00000590782.2_Missense_Mutation_p.H324Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	326					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.H326Y(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTCTTCGTGAAACTAGGGG	0.582000													75	98					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34640751	34640751	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34640751C>G	ENST00000433395.2	+	4	485	c.485C>G	c.(484-486)tCa>tGa	p.S162*	IL10RB_ENST00000290200.2_Missense_Mutation_p.F34L														p.F34L(1)									CTGTTAATTTCAAGAACATTC	0.418000													26	129					0	0	1	0	0
LOC100134368	100134368	broad.mit.edu	37	16	437153	437153	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:437153G>A	ENST00000412293.1	+	0	521					NR_024453.2																						GATTCCGCCTGATGGAGAGAA	0.493000													22	94					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999180	29999180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:29999180G>A	ENST00000308893.4	+	16	4630	c.3587G>A	c.(3586-3588)cGg>cAg	p.R1196Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R1083Q|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R1023Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1196					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.R1196Q(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGAATCCCCCGGCTACTACCA	0.721000													3	15					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773814	25773814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:25773814C>G	ENST00000377905.4	+	8	1018	c.899C>G	c.(898-900)tCt>tGt	p.S300C	SLC17A4_ENST00000397076.2_Missense_Mutation_p.S70C|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	300					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.S300C(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTTTAGTCTCTTATTTCTGT	0.448000													3	32					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235073	100235073	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:100235073G>C	ENST00000305046.8	-	6	800	c.733C>G	c.(733-735)Caa>Gaa	p.Q245E	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q205E			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	245					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.Q245E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGTAGTCTTGAGGGTTGATG	0.468000													79	93					0	0	1	0	0
RNF5	6048	broad.mit.edu	37	6	32147331	32147331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:32147331C>T	ENST00000427134.2	+	2	169	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	RNF5_ENST00000375094.3_Missense_Mutation_p.H52Y|RNF5_ENST00000487940.1_3'UTR			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	52					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H52Y(1)		endometrium(1)|lung(7)|urinary_tract(2)	10						GCCATGTCTTCATCAGGTGCG	0.473000													285	511					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													5	36					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679423	219679423	+	Silent	SNP	C	C	G	rs138596741		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:219679423C>G	ENST00000258415.4	+	8	1846	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	473					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.V473V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GCTATGGGGTCCGGGCCTGCC	0.637000													13	32					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25322078	25322078	+	RNA	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:25322078G>A	ENST00000549804.2	+	0	1184																											GGAGATGCCAGGAAGCCCCTT	0.527000													12	18					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1155713	1155713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:1155713G>C	ENST00000356191.2	+	5	399	c.399G>C	c.(397-399)gaG>gaC	p.E133D						mucin 5AC, oligomeric mucus/gel-forming									p.S134T(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCCACGCTGAGCAGGGTCCTC	0.637000													12	14					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721626	72721626	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:72721626C>T	ENST00000428206.1	-	3	244	c.231G>A	c.(229-231)gtG>gtA	p.V77V	NSUN5_ENST00000310326.8_Silent_p.V115V|NSUN5_ENST00000252594.6_Silent_p.V115V|NSUN5_ENST00000438747.2_Silent_p.V115V	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	115							methyltransferase activity	p.V115V(2)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATTCCGGCTCACACCCCGAT	0.642000													10	29					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768802	31768802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:31768802G>A	ENST00000355459.2	+	1	411	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	133						intermediate filament		p.G133E(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTTATGGAGGCTGTGGC	0.582000													23	12					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442604	52442604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:52442604G>C	ENST00000460680.1	-	4	612	c.141C>G	c.(139-141)atC>atG	p.I47M	BAP1_ENST00000296288.5_Missense_Mutation_p.I47M	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	47					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I47M(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGAACAGGAAGATAAATCCAT	0.473000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							3	23					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424064	89424064	+	RNA	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:89424064C>T	ENST00000532352.1	+	0	1527							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.F238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAAACAAATTCAGCGGCTATC	0.328000													3	31					0	0	1	0	0
YWHAB	7529	broad.mit.edu	37	20	43535062	43535062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:43535062G>A	ENST00000372839.3	+	7	998	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.G242R	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	242					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	p.G242R(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AGGAGACGCTGGGGAGGGAGA	0.438000													34	82					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067796	9067796	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:9067796C>T	ENST00000397910.4	-	3	19853	c.19650G>A	c.(19648-19650)gtG>gtA	p.V6550V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6552	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6550V(2)|p.V2183V(1)		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						CTGTGGTCTTCACTAGGCCAG	0.483000													20	15					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
NEU2	4759	broad.mit.edu	37	2	233899698	233899698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:233899698delT	ENST00000233840.3	+	2	1074	c.1074delT	c.(1072-1074)gatfs	p.D358fs		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	358							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGCCAATGATTACGAGGAGA	0.577													92	285	---	---	---	---					
MYOT	9499	broad.mit.edu	37	5	137222941	137222941	+	Frame_Shift_Del	DEL	G	G	-	rs141801816	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:137222941delG	ENST00000239926.4	+	10	1738	c.1364delG	c.(1363-1365)cggfs	p.R455fs	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Frame_Shift_Del_p.R271fs|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Frame_Shift_Del_p.R340fs	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	455	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGCAGTTACGGGTTCGACCA	0.393													42	133	---	---	---	---					
TAS2R50	259296	broad.mit.edu	37	12	11139103	11139106	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:11139103_11139106delAAGA	ENST00000506868.1	-	1	405_408	c.354_357delTCTT	c.(352-357)tttcttfs	p.FL118fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	118					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCTTTAAATGAAGAAAAAGAAGGT	0.392													23	69	---	---	---	---					
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:57009177_57009178insC	ENST00000179765.5	-	3	549_550	c.350_351insG	c.(349-351)ggafs	p.G117fs	BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584													76	151	---	---	---	---					
RP11-51O6.1	0	broad.mit.edu	37	16	61089308	61089309	+	RNA	INS	-	-	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:61089308_61089309insC	ENST00000591758.1	-	0	559_560																											tcttcttttttttttttttttt	0.257													15	12	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													7	56	---	---	---	---					
MMP24	10893	broad.mit.edu	37	20	33862215	33862216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:33862215_33862216insG	ENST00000246186.6	+	9	1826_1827	c.1741_1742insG	c.(1741-1743)cggfs	p.R581fs	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	581					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAAGGAGCGGCGGCTGCCCCAG	0.644													7	221	---	---	---	---					
