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
OR2T6	254879	broad.mit.edu	37	1	248551081	248551081	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:248551081C>A	ENST00000355728.2	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58T(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCACACCCCCATGTACTT	0.483000													10	36					0.000442599	0.000486965	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219903124	219903124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:219903124C>T	ENST00000341552.5	-	4	413	c.330G>A	c.(328-330)atG>atA	p.M110I	CCDC108_ENST00000441968.1_Missense_Mutation_p.M110I|CCDC108_ENST00000410037.1_Missense_Mutation_p.M45I|CCDC108_ENST00000295729.2_Missense_Mutation_p.M45I|CCDC108_ENST00000409865.3_Missense_Mutation_p.M99I|CCDC108_ENST00000324264.6_Missense_Mutation_p.M45I|CCDC108_ENST00000453220.1_Missense_Mutation_p.M110I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	110						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGCACTCATGGCTGCAC	0.647000													5	16					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36166632	36166632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:36166632C>G	ENST00000274255.6	+	4	600	c.404C>G	c.(403-405)tCt>tGt	p.S135C	SKP2_ENST00000274254.5_Missense_Mutation_p.S135C|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_5'UTR	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	135	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S135F(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGATGAGTCTCTATGGCAG	0.488000													9	85					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625231	74625231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:74625231G>A	ENST00000156626.7	-	2	893	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	232					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGGGTGGCCTGAGGTTTCTTC	0.557000													11	48					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26218161	26218161	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:26218161A>T	ENST00000405154.2	+	3	1033	c.834A>T	c.(832-834)caA>caT	p.Q278H	RASSF8_ENST00000282884.9_Missense_Mutation_p.Q278H|RASSF8_ENST00000542865.1_Missense_Mutation_p.Q278H|RASSF8_ENST00000541490.1_Missense_Mutation_p.Q278H|RASSF8_ENST00000381352.3_Missense_Mutation_p.Q278H	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	278	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AAAAATTGCAACGGGAAGTTC	0.413000													20	62					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875198	96875198	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:96875198G>T	ENST00000267584.4	+	4	462	c.418G>T	c.(418-420)Gtc>Ttc	p.V140F	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	140					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGTGAAGAAGTCAGCCACTT	0.473000													6	35					2.7689e-08	3.54573e-08	1	1	0
DLL3	10683	broad.mit.edu	37	19	39995920	39995920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:39995920C>T	ENST00000205143.4	+	6	929	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACGGGCTGCGGTGTGAGGT	0.587000													13	62					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16189226	16189226	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:16189226C>G	ENST00000428559.2	+	8	1023	c.811C>G	c.(811-813)Ctt>Gtt	p.L271V	DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Missense_Mutation_p.L228V|DERA_ENST00000526530.1_Missense_Mutation_p.L183V	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	271					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TTGGCTCTCTCTTGTAAAGGA	0.468000													3	28					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852482	40852482	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:40852482C>A	ENST00000254691.5	+	3	1247	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	350					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCACAAGGTTCTGGATGAAGA	0.478000													4	18					0.00909568	0.00944394	1	1	0
ZNF436	80818	broad.mit.edu	37	1	23688497	23688497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:23688497C>G	ENST00000314011.4	-	4	1514	c.1378G>C	c.(1378-1380)Gct>Cct	p.A460P	ZNF436_ENST00000374608.3_Missense_Mutation_p.A460P	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTAATAAGAGCTGAGCTCCTG	0.378000													22	62					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51092153	51092153	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:51092153C>G	ENST00000301180.5	+	18	2125	c.2091C>G	c.(2089-2091)ctC>ctG	p.L697L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	697						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GAGCCATTCTCTCAATGAATG	0.448000													20	55					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551499	99551499	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:99551499G>C	ENST00000373034.4	-	6	4898	c.3223C>G	c.(3223-3225)Ctg>Gtg	p.L1075V	PCDH19_ENST00000420881.2_Missense_Mutation_p.L1027V|PCDH19_ENST00000255531.7_Missense_Mutation_p.L1028V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1075					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TTGGTGGGCAGAGAGCTCTTG	0.592000													13	18					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134152	153134152	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:153134152C>A	ENST00000370060.1	-	13	1599	c.1410G>T	c.(1408-1410)caG>caT	p.Q470H	L1CAM_ENST00000361699.4_Missense_Mutation_p.Q470H|L1CAM_ENST00000370057.3_Missense_Mutation_p.Q470H|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q472H|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q472H|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q465H|L1CAM_ENST00000370055.1_Missense_Mutation_p.Q465H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	470	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGTTCGTCCTGAAGCACTG	0.642000													24	18					3.08376e-08	3.91629e-08	1	1	0
SYNCRIP	10492	broad.mit.edu	37	6	86325058	86325058	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:86325058C>T	ENST00000355238.6	-	11	1494	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.D430N	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	430	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TAGTAGTAATCGTCATACCTA	0.378000													3	11					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541817	12541817	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:12541817T>C	ENST00000301547.5	-	4	1366	c.1169A>G	c.(1168-1170)gAg>gGg	p.E390G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	390					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATAGGGTTTCTCTCCAGTGTG	0.418000													34	179					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582264	247582264	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:247582264G>T	ENST00000366497.2	+	2	948	c.168G>T	c.(166-168)acG>acT	p.T56T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.T56T|NLRP3_ENST00000336119.3_Silent_p.T56T|NLRP3_ENST00000348069.2_Silent_p.T56T|NLRP3_ENST00000391827.2_Silent_p.T56T|NLRP3_ENST00000366496.2_Silent_p.T56T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	56	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCTAGCCACGCTAATGATCG	0.527000													6	9					0.00198382	0.00211699	1	1	0
GNB1L	54584	broad.mit.edu	37	22	19776237	19776237	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:19776237C>A	ENST00000329517.6	-	8	1215	c.979G>T	c.(979-981)Gca>Tca	p.A327S	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.A327S|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	327					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GTGAGTCATGCGCGTGGGTAG	0.677000													10	25					0.00621372	0.00654001	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228506762	228506762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:228506762G>A	ENST00000570156.2	+	65	17254	c.17180G>A	c.(17179-17181)cGc>cAc	p.R5727H	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1889H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4770H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2404H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4770H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4770	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCTCGCAGCGCCTGCCACAG	0.652000													5	8					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452288	43452288	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:43452288C>A	ENST00000282388.3	-	2	948	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	219					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				cgccgcTCGTCCGCGTTGTGG	0.706000													6	9					0.00116845	0.00125854	1	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211994	90211994	+	RNA	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:90211994C>T	ENST00000390277.2	+	0	183																											CAGTCTCCAGCCACCCTGTCT	0.488000													16	39					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018415	1018415	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:1018415G>A	ENST00000421673.2	-	31	4436	c.4386C>T	c.(4384-4386)gtC>gtT	p.V1462V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1462	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGGGTGATGACTGTGTGAG	0.567000													6	267					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265361	41265361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:41265361C>G	ENST00000243563.3	+	3	822	c.272C>G	c.(271-273)tCa>tGa	p.S91*	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	91						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAGACCGACTCAGATATCATT	0.532000													11	38					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32738163	32738163	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:32738163A>G	ENST00000421745.2	+	54	10644	c.10510A>G	c.(10510-10512)Agt>Ggt	p.S3504G		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3504					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTGTGGCATAGTTATGAGCT	0.428000													10	28					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43516071	43516071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:43516071C>A	ENST00000265351.7	-	18	2197	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	663					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTCTGACGCTCGTAGTTCTTA	0.502000													27	59					1.75199e-13	2.45491e-13	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4792804	4792804	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:4792804G>C	ENST00000269856.3	+	1	1077	c.938G>C	c.(937-939)cGa>cCa	p.R313P	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	313					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GATAAGAAACGAGATCTGCTT	0.607000													7	32					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109042	36109042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:36109042G>A	ENST00000203166.5	+	10	791	c.766G>A	c.(766-768)Gca>Aca	p.A256T	HAUS5_ENST00000379045.2_Missense_Mutation_p.A256T	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	256					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGAGCGGGAGGCAGAGATTCG	0.632000													22	33					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156851	155156851	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:155156851T>G	ENST00000357232.4	-	25	7587	c.7588A>C	c.(7588-7590)Aca>Cca	p.T2530P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCCAAGGGTGTTCCTTCAGAG	0.403000													13	20					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646826	122646826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:122646826C>T	ENST00000195173.4	-	8	964	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E275K|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E221K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	221	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGATCTTCTCAATAGTCCGG	0.582000													5	49					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70602336	70602336	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:70602336A>G	ENST00000302516.5	+	22	3314	c.3103A>G	c.(3103-3105)Aca>Gca	p.T1035A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1035					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATGGGTCACTACAGCCAGCCT	0.463000													18	30					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87805743	87805743	+	Missense_Mutation	SNP	C	C	T	rs139269304		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:87805743C>T	ENST00000370544.5	+	4	1127	c.347C>T	c.(346-348)tCt>tTt	p.S116F	LMO4_ENST00000370542.1_Missense_Mutation_p.S116F|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	116	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TTTACATGCTCTACCTGCCGG	0.403000													17	104					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46641984	46641984	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr21:46641984G>A	ENST00000539173.1	+	12	2533	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	ADARB1_ENST00000348831.4_Missense_Mutation_p.E660K|ADARB1_ENST00000360697.3_Missense_Mutation_p.E700K|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.E700K	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	700	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CGTGTACCATGAGTCCAAGCT	0.557000													10	16					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49496279	49496279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:49496279C>G	ENST00000323798.3	-	1	287	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	GYS1_ENST00000263276.6_Missense_Mutation_p.E31Q|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Silent_p.S11S|GYS1_ENST00000541188.1_Silent_p.S11S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	31					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CAGGCCACTTCGAAGAGCACT	0.592000											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	52					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67877244	67877244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:67877244G>A	ENST00000303596.1	+	1	1032	c.787G>A	c.(787-789)Gag>Aag	p.E263K	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CAAGCTGAATGAGCAGCGGGA	0.577000													28	93					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599351	29599351	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:29599351G>A	ENST00000431530.3	+	1	604	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	172						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGAGGAACTGAGGAGGCATT	0.537000													10	51					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900805	3900805	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:3900805C>T	ENST00000262367.5	-	2	1100	c.291G>A	c.(289-291)caG>caA	p.Q97Q	CREBBP_ENST00000382070.3_Silent_p.Q97Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	97					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACCCAGGCCCTGCTGCACGG	0.592000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	35					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185655646	185655646	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:185655646C>T	ENST00000453386.2	-	1	278	c.3G>A	c.(1-3)atG>atA	p.M1I	TRA2B_ENST00000342294.4_Start_Codon_SNP_p.M1I|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	1					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CGCTGTCGCTCATGACTCCTG	0.627000													12	26					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209797343	209797343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:209797343C>T	ENST00000391911.1	-	14	2368	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	LAMB3_ENST00000356082.4_Missense_Mutation_p.R660Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R660Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	660	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGAGAGTTCGCCTGAGAAG	0.532000													14	27					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451723	138451723	+	Missense_Mutation	SNP	C	C	T	rs146004801	by1000genomes	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:138451723C>T	ENST00000344876.4	-	1	1906	c.1520G>A	c.(1519-1521)aGt>aAt	p.S507N	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S287N|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S507N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	507	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAGAATAAAACTCTCCAAGAT	0.408000													35	75					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014597	127014597	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:127014597C>T	ENST00000393313.1	-	5	1384	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	ZNF800_ENST00000265827.3_Missense_Mutation_p.E265K|ZNF800_ENST00000393312.1_Missense_Mutation_p.E265K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTCGTGTTTCAATGTACTTT	0.358000													21	93					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818288	151818288	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:151818288C>A	ENST00000370306.2	+	6	714	c.694C>A	c.(694-696)Cag>Aag	p.Q232K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	232						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GCATATCCCTCAGTTCACTTT	0.488000													18	53					9.16793e-09	1.19054e-08	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204214795	204214795	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:204214795C>A	ENST00000272203.3	-	14	2296	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E680D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	660										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCCTCAGCCCCTCCATCACGT	0.597000													12	54					4.93089e-13	6.86749e-13	1	1	0
SLC39A2	29986	broad.mit.edu	37	14	21469737	21469737	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:21469737G>C	ENST00000298681.4	+	4	1086	c.929G>C	c.(928-930)tGa>tCa	p.*310S	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	0						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTGTGGGCCTGAGAGATTCCT	0.512000													16	59					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30065713	30065713	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:30065713G>A	ENST00000201979.2	+	3	716	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	141					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGAGAAACTGGTATGGCACT	0.552000													4	7					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608859	84608859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:84608859G>T	ENST00000344803.2	+	4	3521	c.3474G>T	c.(3472-3474)agG>agT	p.R1158S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CACAAACTAGGAACAACTTGA	0.418000													5	24					1.024e-07	1.28278e-07	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29920926	29920926	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:29920926G>A	ENST00000256062.5	-	2	534	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	TMTC1_ENST00000551659.1_Silent_p.L129L|TMTC1_ENST00000539277.1_Silent_p.L129L|TMTC1_ENST00000381224.2_Silent_p.L21L|TMTC1_ENST00000552618.1_Silent_p.L129L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	129						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTGTACATCAGCACAAGAGTC	0.363000													12	26					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796906	109796906	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:109796906C>A	ENST00000297459.3	-	2	600	c.422G>T	c.(421-423)tGg>tTg	p.W141L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	141					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TGGATTTTCCCAGCCAAGCTC	0.473000													13	88					7.93312e-07	9.75245e-07	1	1	0
TARS2	80222	broad.mit.edu	37	1	150461520	150461520	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:150461520C>G	ENST00000369064.3	+	3	378	c.344C>G	c.(343-345)tCt>tGt	p.S115C	TARS2_ENST00000606933.1_Missense_Mutation_p.S115C|TARS2_ENST00000369054.2_Missense_Mutation_p.S115C|TARS2_ENST00000438568.2_Missense_Mutation_p.S115C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	115					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GAGACAGATTCTGACCTCAGA	0.463000													23	100					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414560	46414560	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:46414560T>C	ENST00000343801.4	+	3	524	c.167T>C	c.(166-168)aTa>aCa	p.I56T	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.I56T|CCR5_ENST00000292303.4_Missense_Mutation_p.I56T	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	56					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CTCATCCTGATAAACTGCAAA	0.498000													29	79					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157112	26157112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:26157112G>T	ENST00000325250.1	+	2	197	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	4							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TATGCCTCGAGGTCAGAAGAG	0.522000													6	16					3.59834e-05	4.09588e-05	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73235173	73235173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:73235173C>A	ENST00000377110.3	-	15	2155	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	TRPM3_ENST00000396285.1_Nonsense_Mutation_p.E485*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.E510*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.E500*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.E642*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.E665*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.E497*|TRPM3_ENST00000377111.2_Nonsense_Mutation_p.E638*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.E487*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.E497*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.E500*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.E510*			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCATGAGCTCATGGAAAGGG	0.547000													53	61					9.57592e-29	1.4149e-28	1	1	0
TBK1	29110	broad.mit.edu	37	12	64890995	64890995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:64890995G>C	ENST00000331710.5	+	18	2254	c.1915G>C	c.(1915-1917)Gat>Cat	p.D639H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	639					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TCAGTGTTTTGATATTGAAGA	0.308000													37	69					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409257	59409257	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:59409257C>A	ENST00000301645.3	-	3	951	c.814G>T	c.(814-816)Gat>Tat	p.D272Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	272					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCTCCAGATCATCAAAGGTG	0.488000									Neonatal Giant Cell Hepatitis				15	121					1.5739e-10	2.13402e-10	1	1	0
OR2AG2	338755	broad.mit.edu	37	11	6790178	6790178	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:6790178C>T	ENST00000338569.2	-	1	108	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTGGAGTTCCGGAGCTCCAT	0.428000													8	20					0	0	1	0	0
XAGE3	170626	broad.mit.edu	37	X	52893894	52893894	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:52893894G>C	ENST00000346279.3	-	4	293	c.223C>G	c.(223-225)Cag>Gag	p.Q75E	XAGE3_ENST00000375491.3_Missense_Mutation_p.Q75E	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	75										kidney(1)|large_intestine(1)|lung(2)	4						GTCTTTGACTGAGACAGCTCC	0.423000													64	13					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294407	124294407	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:124294407G>T	ENST00000356130.3	-	1	382	c.361C>A	c.(361-363)Cgc>Agc	p.R121S		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCACATAGCGATCATAGGCC	0.453000													11	32					6.40141e-05	7.23297e-05	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79460532	79460532	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:79460532C>A	ENST00000264895.6	+	73	11823	c.11383C>A	c.(11383-11385)Cat>Aat	p.H3795N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3790					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCTGATTTCCATGTGGTCAG	0.433000													22	108					1.55795e-14	2.21671e-14	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76349082	76349082	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:76349082G>T	ENST00000298832.9	+	30	3782	c.3577G>T	c.(3577-3579)Ggt>Tgt	p.G1193C	TTLL5_ENST00000557636.1_Missense_Mutation_p.G1208C|TTLL5_ENST00000554510.1_Missense_Mutation_p.G702C|TTLL5_ENST00000556893.1_Missense_Mutation_p.G744C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1193					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATGAATAATGGTGCAGGTTG	0.453000													7	55					1.58986e-06	1.92369e-06	1	1	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108883	90108883	+	RNA	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:90108883G>A	ENST00000390271.2	+	0	174																											TGAAGGCATTGGCAACTACTT	0.537000													9	27					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199320	42199320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:42199320G>A	ENST00000373100.1	+	8	884	c.424G>A	c.(424-426)Gag>Aag	p.E142K	SGK2_ENST00000373077.1_Missense_Mutation_p.E141K|SGK2_ENST00000373092.3_Missense_Mutation_p.E142K|SGK2_ENST00000341458.4_Missense_Mutation_p.E202K|SGK2_ENST00000426287.1_Missense_Mutation_p.E168K|SGK2_ENST00000423407.3_Missense_Mutation_p.E142K|SGK2_ENST00000485914.1_3'UTR			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	202	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTACGCTGCTGAGGTGGCCAG	0.617000													13	45					0	0	1	0	0
GABARAP	11337	broad.mit.edu	37	17	7144969	7144969	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:7144969C>G	ENST00000302386.5	-	2	559	c.120G>C	c.(118-120)cgG>cgC	p.R40R	GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000573928.1_Silent_p.R40R|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571253.1_5'UTR	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	40	Interaction with GABRG2 (Potential).|Interaction with GPHN (By similarity).				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding			breast(1)|lung(2)	3						GGTCTCCTATCCGAGCTTTGG	0.493000													36	78					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857748	14857748	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:14857748C>G	ENST00000380881.4	-	6	1447		c.e6-1		FREM1_ENST00000380880.3_Splice_Site|FREM1_ENST00000422223.2_Splice_Site			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTCTCAGTTCTAGAATGTAC	0.428000													3	41					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328662	48328662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:48328662G>C	ENST00000319988.1	+	1	888	c.888G>C	c.(886-888)atG>atC	p.M296I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AAAATGCCATGAGGAAGCTGT	0.433000													9	24					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432491	26432491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:26432491G>C	ENST00000265944.5	+	21	2543	c.2377G>C	c.(2377-2379)Gaa>Caa	p.E793Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	793	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTGATGAAGAAAGTAGATT	0.408000													46	46					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68964739	68964739	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:68964739T>A	ENST00000356291.2	-	2	88	c.29A>T	c.(28-30)gAa>gTa	p.E10V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	10					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATTCAGCTTCTGAAAATTC	0.328000													5	38					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60665571	60665571	+	Splice_Site	SNP	A	A	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:60665571A>C	ENST00000227524.4	-	14	1517		c.e14+1			NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19						DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GGAAGGGCACACCTCAAAGTT	0.463000													11	29					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944593	47944593	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:47944593C>A	ENST00000236877.6	-	5	2263		c.e5+1		SLC8A2_ENST00000542837.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000539381.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCACCCCTCACCTGAAATCCC	0.527000													7	30					1.12685e-05	1.3252e-05	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6521009	6521009	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:6521009G>T	ENST00000263125.5	-	12	1397	c.1298C>A	c.(1297-1299)tCc>tAc	p.S433Y	PRKCQ_ENST00000397176.2_Missense_Mutation_p.S433Y|PRKCQ_ENST00000539722.1_Missense_Mutation_p.S308Y	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	433	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCAGGCCAAGGAAAGAACTCT	0.458000													8	64					0.00307968	0.00326375	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86261372	86261372	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:86261372C>A	ENST00000394518.2	+	22	6078	c.5983C>A	c.(5983-5985)Cgg>Agg	p.R1995R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.R240R|AKAP13_ENST00000361243.2_Silent_p.R1999R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1995	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTGGTCAAACGGCAAGAAGT	0.373000													7	46					0.00198382	0.00211699	1	1	0
ZFP36L2	678	broad.mit.edu	37	2	43452289	43452289	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:43452289C>A	ENST00000282388.3	-	2	947	c.654G>T	c.(652-654)gcG>gcT	p.A218A	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	218					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gccgcTCGTCCGCGTTGTGGA	0.706000													6	8					0.00116845	0.00125854	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28098656	28098656	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:28098656C>T	ENST00000263181.6	-	10	1613	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	441					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTCCAACTTCAGATATTCTT	0.303000													29	297					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38643844	38643844	+	Silent	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:38643844G>C	ENST00000299084.4	+	7	2174	c.1314G>C	c.(1312-1314)ggG>ggC	p.G438G		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	438	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTGTGGTGGGAAACATAAAG	0.448000									Legius syndrome				11	36					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90276270	90276270	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:90276270G>A	ENST00000268130.7	+	13	1465	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	WDR93_ENST00000560294.1_Intron|WDR93_ENST00000444934.2_Missense_Mutation_p.G172E	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	455					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCCTCAGGGATGTTTCTGC	0.488000													24	53					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132045	49132045	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:49132045C>T	ENST00000443164.1	+	5	1871	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000245222.4_Missense_Mutation_p.S327F|SPHK2_ENST00000599748.1_Missense_Mutation_p.S291F|SPHK2_ENST00000598088.1_Missense_Mutation_p.S327F|SPHK2_ENST00000599029.1_Missense_Mutation_p.S291F|SPHK2_ENST00000600537.1_Missense_Mutation_p.S268F			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	327					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCCTCGGGCTCCCGCTGTTTC	0.647000													8	57					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107046	146107046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:146107046C>T	ENST00000292579.7	-	6	1653	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.G508R	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AAGGCCTTCCCGCAGCTATTG	0.577000													12	17					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233428956	233428956	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:233428956G>A	ENST00000409514.1	+	4	312		c.e4-1		EIF4E2_ENST00000409098.1_Splice_Site|EIF4E2_ENST00000409495.1_Splice_Site|EIF4E2_ENST00000258416.3_Splice_Site|EIF4E2_ENST00000409394.1_Splice_Site|EIF4E2_ENST00000409167.3_Splice_Site|EIF4E2_ENST00000409322.1_Splice_Site	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2						regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCTCTGCAGGTGGAGCAGT	0.433000													3	5					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968978	64968978	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:64968978C>A	ENST00000399262.2	-	9	2930	c.2712G>T	c.(2710-2712)tgG>tgT	p.W904C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.W685C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.W722C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.W685C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	904					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGATGTAGCCAAGGACTGG	0.428000													6	20					0.0215528	0.0219819	1	1	0
HACL1	26061	broad.mit.edu	37	3	15642659	15642659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:15642659C>T	ENST00000321169.5	-	2	491	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	HACL1_ENST00000435217.2_Missense_Mutation_p.E42K|HACL1_ENST00000457447.2_Missense_Mutation_p.E42K|HACL1_ENST00000456194.2_Missense_Mutation_p.E42K|HACL1_ENST00000451445.2_Missense_Mutation_p.E42K	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	42					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATGGCGATTTCGGTCACTGGG	0.532000													8	40					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703692	52703692	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:52703692G>T	ENST00000287727.3	+	4	775	c.603G>T	c.(601-603)gaG>gaT	p.E201D	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E201D|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E201D			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	201					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTATAAATGAGTCCACTGAAA	0.333000													22	29					9.95505e-16	1.43415e-15	1	1	0
HTR7	3363	broad.mit.edu	37	10	92509000	92509000	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:92509000C>G	ENST00000371721.3	-	2	1133	c.891G>C	c.(889-891)aaG>aaC	p.K297N	HTR7_ENST00000336152.3_Missense_Mutation_p.K297N|HTR7_ENST00000277874.6_Missense_Mutation_p.K297N|HTR7_ENST00000371719.2_Missense_Mutation_p.K297N			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	297					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.K297_E298>N*(2)|p.K297N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CTTCCACCTCCTTCTGGAGCT	0.527000													3	11					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155030453	155030453	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:155030453G>A	ENST00000356955.2	+	14	1644	c.1543G>A	c.(1543-1545)Ggg>Agg	p.G515R	ADAM15_ENST00000447332.3_Missense_Mutation_p.G499R|ADAM15_ENST00000449910.2_Missense_Mutation_p.G515R|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000271836.6_Missense_Mutation_p.G515R|ADAM15_ENST00000360674.4_Missense_Mutation_p.G515R|ADAM15_ENST00000368410.2_Missense_Mutation_p.G221R|ADAM15_ENST00000531455.1_Missense_Mutation_p.G525R|ADAM15_ENST00000359280.4_Missense_Mutation_p.G515R|ADAM15_ENST00000368413.1_Missense_Mutation_p.G221R|ADAM15_ENST00000368412.3_Missense_Mutation_p.G515R|ADAM15_ENST00000355956.2_Missense_Mutation_p.G515R	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	515	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			CTGCGCTGGCGGGCAAGCTGT	0.637000													21	31					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102527632	102527632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:102527632C>T	ENST00000376131.4	-	2	318	c.223G>A	c.(223-225)Ggt>Agt	p.G75S	FGF14_ENST00000468052.1_5'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.G70S	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	70					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCACTATACCCTTGAGCTGG	0.418000													18	26					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514335	58514335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:58514335C>T	ENST00000370996.3	-	1	1017	c.652G>A	c.(652-654)Gag>Aag	p.E218K	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	218	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCCACCGCCTCGTGGGTACTG	0.682000													4	39					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27721122	27721122	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:27721122G>A	ENST00000264717.2	+	4	349	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	96	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCTTCTTCAGGAGCCAGATGG	0.532000													9	16					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141711099	141711099	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:141711099C>A	ENST00000522684.1	-	26	2619	c.2390G>T	c.(2389-2391)cGa>cTa	p.R797L	PTK2_ENST00000340930.3_Missense_Mutation_p.R797L|PTK2_ENST00000521059.1_Missense_Mutation_p.R797L|PTK2_ENST00000519465.1_Missense_Mutation_p.R425L|PTK2_ENST00000535192.1_Missense_Mutation_p.R751L|PTK2_ENST00000395218.2_Missense_Mutation_p.R797L|PTK2_ENST00000519419.1_Missense_Mutation_p.R841L|PTK2_ENST00000538769.1_Missense_Mutation_p.R465L|PTK2_ENST00000517887.1_Missense_Mutation_p.R841L|PTK2_ENST00000430260.2_Missense_Mutation_p.R107L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	797	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCCAATCCCTCGCAGGTCCAA	0.453000													8	46					0.0381472	0.0388209	1	1	0
IGHG2	3501	broad.mit.edu	37	14	106110915	106110915	+	RNA	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:106110915C>T	ENST00000390545.2	-	0	212																											TGCTGGAGGGCACGGTCACCA	0.612000													35	39					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399447	89399447	+	RNA	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:89399447C>G	ENST00000479981.1	-	0	282																											GATCCACTGCCGCTGAACTTT	0.478000													37	150					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748149	19748149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:19748149C>T	ENST00000400113.3	-	5	1311	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	403					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGCACAAAGGCCCGCTTGGCA	0.612000													29	111					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73588653	73588653	+	Missense_Mutation	SNP	C	C	A	rs138880818	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:73588653C>A	ENST00000394936.3	-	5	704	c.557G>T	c.(556-558)cGc>cTc	p.R186L	PSAP_ENST00000394934.1_Missense_Mutation_p.R186L			P07602	SAP_HUMAN	prosaposin	186					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGGCTTGCTGCGGGGGCCGTC	0.592000													9	32					1.12685e-05	1.3252e-05	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32048734	32048734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:32048734C>T	ENST00000438447.1	+	8	1997	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R537*			O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGGTCTCCCGAGATGGCCG	0.562000													10	49					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139975	34139975	+	Silent	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:34139975G>C	ENST00000257829.3	+	8	911	c.705G>C	c.(703-705)ctG>ctC	p.L235L	NAT10_ENST00000531159.2_Silent_p.L163L|NAT10_ENST00000527971.1_Silent_p.L235L	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	235						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATCTGGAGCTGAGGGAGTTGA	0.537000													80	9					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772458	97772458	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:97772458T>C	ENST00000344386.3	+	4	454	c.290T>C	c.(289-291)aTa>aCa	p.I97T	CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.I97T|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	97										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTTCTGGATATATTTCTTCAC	0.313000													9	23					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19326156	19326156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:19326156C>T	ENST00000380432.2	+	11	1409	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	DENND4C_ENST00000434457.2_Missense_Mutation_p.P695L|DENND4C_ENST00000602925.1_Missense_Mutation_p.P695L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	459						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCAGAGCCACCTCCTGATGAT	0.373000													37	41					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866499	26866499	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:26866499G>T	ENST00000541819.2	-	5	693	c.591C>A	c.(589-591)atC>atA	p.I197I	GABRB3_ENST00000299267.4_Silent_p.I141I|GABRB3_ENST00000545868.1_Silent_p.I56I|GABRB3_ENST00000311550.5_Silent_p.I141I|GABRB3_ENST00000400188.3_Silent_p.I70I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	141					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGAAGACGGATCATGCGGT	0.473000													19	40					4.96729e-08	6.27376e-08	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399446	89399446	+	RNA	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:89399446C>G	ENST00000479981.1	-	0	283																											AGATCCACTGCCGCTGAACTT	0.473000													37	152					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													7	40					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146041299	146041299	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:146041299G>A	ENST00000296577.4	+	11	1653	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	380	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GATGCTGGGGGAAAATGGTAA	0.299000													11	22					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45132680	45132680	+	Silent	SNP	G	G	T	rs149767702		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:45132680G>T	ENST00000403581.1	+	10	1398	c.789G>T	c.(787-789)tcG>tcT	p.S263S	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Silent_p.S240S|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000006251.7_Silent_p.S231S|PRR5_ENST00000477331.1_3'UTR	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCTCCCGCTCGGGGGACGTGC	0.701000													12	33					1.5842e-08	2.05145e-08	1	1	0
FYN	2534	broad.mit.edu	37	6	112017536	112017536	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:112017536A>G	ENST00000354650.3	-	10	1592	c.986T>C	c.(985-987)cTc>cCc	p.L329P	FYN_ENST00000368667.2_Missense_Mutation_p.L329P|FYN_ENST00000538466.1_Missense_Mutation_p.L326P|FYN_ENST00000356013.2_Missense_Mutation_p.L274P|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Missense_Mutation_p.L326P|FYN_ENST00000229470.5_Missense_Mutation_p.L277P|FYN_ENST00000368678.4_Missense_Mutation_p.L326P|FYN_ENST00000229471.4_Missense_Mutation_p.L274P	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	329	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CACTGCATAGAGCTGGACCAG	0.507000													22	17					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541542	40541542	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:40541542C>T	ENST00000434248.1	-	5	1289	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	ZNF780B_ENST00000221355.6_Silent_p.Q260Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATGAATACTCTGGTGTTGAA	0.353000													58	74					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226546	56226546	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:56226546G>T	ENST00000332836.2	-	6	2403	c.2376C>A	c.(2374-2376)tcC>tcA	p.S792S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	792						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGAGGACTTCGGAAATGGAGT	0.527000													5	24					0.000602214	0.000659432	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113317063	113317063	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:113317063T>G	ENST00000297405.5	-	52	8397	c.8153A>C	c.(8152-8154)aAa>aCa	p.K2718T	CSMD3_ENST00000343508.3_Missense_Mutation_p.K2678T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.K2648T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2718	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTTTGGTTTTGTATTCATA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	65					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134151	153134151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:153134151C>A	ENST00000370060.1	-	13	1600	c.1411G>T	c.(1411-1413)Gac>Tac	p.D471Y	L1CAM_ENST00000361699.4_Missense_Mutation_p.D471Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.D471Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.D473Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.D473Y|L1CAM_ENST00000361981.3_Missense_Mutation_p.D466Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.D466Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	471	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCGTTCGTCCTGAAGCACT	0.637000													24	18					3.08376e-08	3.91629e-08	1	1	0
ABCA3	21	broad.mit.edu	37	16	2349500	2349500	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:2349500C>A	ENST00000301732.5	-	14	2345	c.1645G>T	c.(1645-1647)Gtc>Ttc	p.V549F	ABCA3_ENST00000382381.3_Missense_Mutation_p.V491F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	549	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGTCTCTGACGGCCGCCCTG	0.637000													50	25					8.44121e-28	1.24326e-27	1	1	0
GHSR	2693	broad.mit.edu	37	3	172165386	172165386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:172165386C>T	ENST00000427970.1	-	1	859	c.818G>A	c.(817-819)aGg>aAg	p.R273K	GHSR_ENST00000241256.2_Intron	NM_004122.2	NP_004113.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	0					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GAGAGAAAGCCTGAGCGCGCG	0.592000													7	39					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61869788	61869788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:61869788G>A	ENST00000578681.1	+	4	839	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000389924.2_Missense_Mutation_p.E80K|DDX42_ENST00000457800.2_Missense_Mutation_p.E80K|DDX42_ENST00000583590.1_Missense_Mutation_p.E80K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	80					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGAAGATGAGGAAGAAGATTC	0.373000													29	59					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183689497	183689497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:183689497G>A	ENST00000334444.6	-	11	1855	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Q539*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	539						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGCACCGCCTGATGCTCAGTG	0.587000													18	50					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440030	150440030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:150440030C>T	ENST00000358647.3	+	3	1170	c.803C>T	c.(802-804)gCa>gTa	p.A268V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTAACTGGGCATACAAGGCG	0.458000													9	30					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90778814	90778814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:90778814C>G	ENST00000354366.3	-	4	713	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTGAAGGTTTCTCCCGTCACA	0.478000													27	125					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100863	27100863	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:27100863G>T	ENST00000359193.2	+	1	32	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	5					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			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						GTCTGGACGTGGCAAGCAGGG	0.587000													13	51					9.31168e-06	1.10352e-05	1	1	0
INF2	64423	broad.mit.edu	37	14	105175045	105175045	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:105175045A>G	ENST00000392634.4	+	10	2037	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S	INF2_ENST00000330634.7_Missense_Mutation_p.N642S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	642	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGAACCTCAACATCTTCCTG	0.607000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	80					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461448	11461448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:11461448G>A	ENST00000279575.1	-	3	502	c.469C>T	c.(469-471)Cct>Tct	p.P157S	PRB4_ENST00000535904.1_Missense_Mutation_p.P157S|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	220	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CCTGGATGAGGTGGGGGACCT	0.602000										HNSCC(22;0.051)			79	112					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73008279	73008279	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:73008279G>A	ENST00000393590.2	+	2	1015	c.716G>A	c.(715-717)cGc>cAc	p.R239H	P2RY6_ENST00000538328.1_Missense_Mutation_p.R239H|P2RY6_ENST00000540342.1_Missense_Mutation_p.R239H|P2RY6_ENST00000542092.1_Missense_Mutation_p.R239H|P2RY6_ENST00000393591.1_Missense_Mutation_p.R239H|P2RY6_ENST00000540124.1_Missense_Mutation_p.R239H|P2RY6_ENST00000349767.2_Missense_Mutation_p.R239H|P2RY6_ENST00000393592.2_Missense_Mutation_p.R239H	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	239					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						AAGGCGGCCCGCATGGCCGTG	0.697000													15	65					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100021	110100021	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:110100021G>T	ENST00000518632.1	+	2	631	c.280G>T	c.(280-282)Ggc>Tgc	p.G94C	TRHR_ENST00000311762.2_Missense_Mutation_p.G94C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	94						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGGGTCTATGGCTATGTTGG	0.473000													14	151					4.7546e-09	6.20927e-09	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100637340	100637340	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:100637340A>T	ENST00000376335.3	+	2	1509	c.1216A>T	c.(1216-1218)Agc>Tgc	p.S406C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	406					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACGCACCCCAGCTCGCTGCG	0.662000													7	52					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408724	166408724	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:166408724G>A	ENST00000402744.4	+	6	1388	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	370					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGCTACCTTGAGCAGGTAAA	0.458000													16	22					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91927952	91927952	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:91927952C>A	ENST00000554684.1	-	14	2622		c.e14-1		SMEK1_ENST00000428424.2_Splice_Site|SMEK1_ENST00000555462.1_Splice_Site|SMEK1_ENST00000337238.4_Splice_Site|SMEK1_ENST00000555718.1_Splice_Site|SMEK1_ENST00000554943.1_Splice_Site	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)							microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTTTCTTTTACTAAAAATGAG	0.393000													6	56					2.0095e-06	2.42507e-06	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26400707	26400707	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:26400707C>A	ENST00000335473.7	+	42	6606	c.6356C>A	c.(6355-6357)tCc>tAc	p.S2119Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.S2119Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.S2120Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2119						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCCTCAGCTCCCAGCCAGAG	0.512000													8	30					0.000157383	0.000174828	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37872107	37872107	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:37872107C>T	ENST00000406381.2	+	14	1848	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	ERBB2_ENST00000584450.1_Silent_p.F476F|ERBB2_ENST00000578199.1_Silent_p.F446F|ERBB2_ENST00000540147.1_Silent_p.F446F|ERBB2_ENST00000269571.5_Silent_p.F476F|ERBB2_ENST00000541774.1_Silent_p.F461F|ERBB2_ENST00000445658.2_Silent_p.F200F|ERBB2_ENST00000540042.1_Silent_p.F446F|ERBB2_ENST00000584601.1_Silent_p.F446F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	476					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACCTCTGCTTCGTGCACACGG	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			4	21					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60407323	60407323	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:60407323A>C	ENST00000400324.4	-	24	3165	c.2945T>G	c.(2944-2946)aTa>aGa	p.I982R	DIAPH3_ENST00000377908.2_Missense_Mutation_p.I971R|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I936R|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I912R|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I982R|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I982R|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	982	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATAGTATCCTATTATACTCTG	0.338000													3	45					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489333	76489333	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:76489333A>G	ENST00000311623.4	+	2	112	c.77A>G	c.(76-78)gAg>gGg	p.E26G	C4orf26_ENST00000435974.2_Missense_Mutation_p.R41G	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	26						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGACAAGAAGAGGTATTTACG	0.517000													14	72					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476844	77476844	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:77476844T>C	ENST00000296043.6	+	2	1204	c.251T>C	c.(250-252)cTg>cCg	p.L84P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	84	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGGTGACTCTGAGCAGCTCC	0.577000													9	42					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278604	36278604	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:36278604G>A	ENST00000007510.4	+	21	3281	c.3137G>A	c.(3136-3138)gGg>gAg	p.G1046E	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G885E|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G882E			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1046					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCTTCCTCGGGGTCCCCAAG	0.687000													22	18					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137987778	137987778	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:137987778G>C	ENST00000252854.4	+	3	502	c.315G>C	c.(313-315)gaG>gaC	p.E105D	OLFM1_ENST00000392991.4_Missense_Mutation_p.E123D|OLFM1_ENST00000371796.3_Missense_Mutation_p.E96D|OLFM1_ENST00000277415.11_Missense_Mutation_p.E105D|OLFM1_ENST00000371793.3_Missense_Mutation_p.E123D	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	123					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGTACGTGGAGAAGATGGAGA	0.493000													10	24					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15833947	15833947	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:15833947C>T	ENST00000452625.2	-	24	3066	c.2979G>A	c.(2977-2979)gaG>gaA	p.E993E	MYH11_ENST00000576790.2_Silent_p.E986E|MYH11_ENST00000396324.3_Silent_p.E993E|MYH11_ENST00000300036.5_Silent_p.E986E	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGACCAGGATCTCATCCTCCA	0.527000			T	CBFB	AML								44	37					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508999	92508999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:92508999C>A	ENST00000371721.3	-	2	1134	c.892G>T	c.(892-894)Gag>Tag	p.E298*	HTR7_ENST00000336152.3_Nonsense_Mutation_p.E298*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.E298*|HTR7_ENST00000371719.2_Nonsense_Mutation_p.E298*			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	298					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.E298*(2)|p.K297_E298>N*(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCTTCCACCTCCTTCTGGAGC	0.527000													3	11					1	1	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115454198	115454198	+	Silent	SNP	C	C	T	rs148948913	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:115454198C>T	ENST00000369522.3	+	18	1764	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_ENST00000369518.1_Silent_p.N508N	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249000													6	28					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33959078	33959078	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:33959078G>T	ENST00000361328.3	+	7	1889	c.1736G>T	c.(1735-1737)gGg>gTg	p.G579V		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	579					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGGCCATGGGGACTGTCCGA	0.607000													14	69					9.31168e-06	1.10352e-05	1	1	0
IGF2	3481	broad.mit.edu	37	11	2154363	2154363	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:2154363G>C	ENST00000416167.2	-	4	1563	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	IGF2_ENST00000418738.2_Missense_Mutation_p.L133V|IGF2_ENST00000300632.5_Missense_Mutation_p.L133V|IGF2_ENST00000434045.2_Missense_Mutation_p.L189V|IGF2_ENST00000381406.4_Missense_Mutation_p.L136V|IGF2_ENST00000381389.1_Missense_Mutation_p.L133V|IGF2_ENST00000381392.1_Missense_Mutation_p.L136V|IGF2_ENST00000381395.1_Missense_Mutation_p.L133V			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	133					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCACGCAGGAGGGCAGGCAGG	0.657000													6	10					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170681	53170681	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:53170681C>A	ENST00000332411.2	-	1	448	c.395G>T	c.(394-396)gGt>gTt	p.G132V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	132	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						accaaatacaccaggaccacc	0.587000													4	6					0.150653	0.152305	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189931493	189931493	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:189931493G>T	ENST00000374866.3	-	22	1691	c.1417C>A	c.(1417-1419)Cca>Aca	p.P473T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	473				Missing (in Ref. 1; CAA75002 and 9; CAA28454).	axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAAACCTGGAACTCCTGGA	0.363000													8	89					2.17888e-05	2.53652e-05	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48688516	48688516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:48688516C>A	ENST00000236495.5	+	1	158	c.108C>A	c.(106-108)taC>taA	p.Y36*	SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.Y36*|SLC5A9_ENST00000438567.2_Nonsense_Mutation_p.Y36*|SLC5A9_ENST00000420136.2_Nonsense_Mutation_p.Y29*	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	36						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TGCACGCCTACGACATCAGCG	0.592000													4	13					0.00909568	0.00944394	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50959929	50959929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:50959929C>T	ENST00000374103.4	-	6	778	c.693G>A	c.(691-693)atG>atA	p.M231I	OGDHL_ENST00000432695.1_Missense_Mutation_p.M22I|OGDHL_ENST00000419399.1_Missense_Mutation_p.M174I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	231					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGAGAACTGCATCACACCAG	0.597000													22	281					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66833713	66833713	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:66833713G>A	ENST00000423207.2	+	13	2067	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I	PDE4B_ENST00000371049.3_Missense_Mutation_p.V543I|PDE4B_ENST00000480109.2_Missense_Mutation_p.V310I|PDE4B_ENST00000329654.4_Missense_Mutation_p.V543I|PDE4B_ENST00000371045.5_Missense_Mutation_p.V371I	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	543					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V371I(1)|p.V543I(1)|p.V528I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAGTTCAGGCGTTCTTCTCCT	0.388000													6	28					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960741	118960741	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:118960741A>G	ENST00000334549.1	+	2	295	c.295A>G	c.(295-297)Aca>Gca	p.T99A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	99						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TAACAGGACCACACACTGGTC	0.542000													22	88					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661129	3661129	+	Missense_Mutation	SNP	C	C	T	rs149052085	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:3661129C>T	ENST00000397068.3	-	2	922	c.530G>A	c.(529-531)cGc>cAc	p.R177H	ART5_ENST00000397067.3_Missense_Mutation_p.R177H|ART5_ENST00000359918.4_Missense_Mutation_p.R177H	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	177						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGCCCAAGCGGACAGAGTC	0.602000													5	19					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709205	77709205	+	Missense_Mutation	SNP	C	C	T	rs144546446		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:77709205C>T	ENST00000328313.5	+	3	984	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	255					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGGACAAACGGGCTGGCGA	0.602000													34	28					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026046	64026046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:64026046G>A	ENST00000540288.1	+	11	1217	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E305K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E372K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	372	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACGGCCGCCTGAGGAGGAACC	0.652000													11	59					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90616366	90616366	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:90616366C>T	ENST00000268154.4	+	3	1773	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R508W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GAACATGAAGCGGCACATGCT	0.572000													11	22					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789240	5789240	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:5789240C>G	ENST00000328090.5	+	15	4481	c.3856C>G	c.(3856-3858)Cta>Gta	p.L1286V		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1286								p.L1286L(1)									TGACTTAGCTCTAACAATATC	0.418000													55	165					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507832	42507832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:42507832G>A	ENST00000262895.3	-	17	2266	c.2267C>T	c.(2266-2268)tCc>tTc	p.S756F	GRIK5_ENST00000301218.4_Missense_Mutation_p.S756F|GRIK5_ENST00000593562.1_Missense_Mutation_p.S756F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	756						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCGGAACGGGGAGCCTGGGCA	0.687000													6	10					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127681161	127681161	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:127681161G>A	ENST00000508053.1	-	30	4079	c.3105C>T	c.(3103-3105)acC>acT	p.T1035T	FBN2_ENST00000508989.1_Silent_p.T1002T|FBN2_ENST00000262464.4_Silent_p.T1035T			P35556	FBN2_HUMAN	fibrillin 2	1035	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTCACACTCGGTGCCCCAAG	0.602000													19	29					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158590024	158590024	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:158590024A>T	ENST00000424310.2	-	9	1544	c.1185T>A	c.(1183-1185)taT>taA	p.Y395*	RNF145_ENST00000521606.2_Nonsense_Mutation_p.Y412*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Y425*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Y409*|RNF145_ENST00000274542.2_Nonsense_Mutation_p.Y423*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Y395*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	395						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATAAGCCATATAAGCAGGGA	0.368000													22	27					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106214250	106214250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:106214250G>A	ENST00000369704.3	+	18	2715	c.2581G>A	c.(2581-2583)Ggc>Agc	p.G861S		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	861										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTTTACTGGGGGCGGATTTCC	0.463000													17	51					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183689683	183689683	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:183689683G>A	ENST00000334444.6	-	11	1669	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.H477Y	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	477						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTATCATGTGAACCTCTTCC	0.478000													15	35					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10536903	10536903	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:10536903G>T	ENST00000334534.5	+	3	232	c.52G>T	c.(52-54)Gat>Tat	p.D18Y		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TGTCCTCGTGGATCTTCATAT	0.393000													9	55					1.58986e-06	1.92369e-06	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110454386	110454386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:110454386G>C	ENST00000378402.5	+	35	4459	c.4355G>C	c.(4354-4356)gGc>gCc	p.G1452A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1452	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTATGATGGCAAAGGATTC	0.388000										HNSCC(38;0.096)			6	43					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135328010	135328010	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:135328010G>C	ENST00000285968.6	+	39	5489	c.5463G>C	c.(5461-5463)caG>caC	p.Q1821H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1821					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			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						TGCTGAAACAGAGTGCTAATG	0.433000													14	56					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21177811	21177811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:21177811C>A	ENST00000602326.1	-	26	4145	c.3562G>T	c.(3562-3564)Gga>Tga	p.G1188*	EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.G786*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.G1182*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.G902*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.G672*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.G1182*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.G1188*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1182					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCACACCTCCTGTGAGCTGC	0.488000													19	47					4.35082e-09	5.71432e-09	1	1	0
TMEM70	54968	broad.mit.edu	37	8	74888564	74888564	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:74888564C>T	ENST00000312184.5	+	1	121	c.48C>T	c.(46-48)ctC>ctT	p.L16L	TMEM70_ENST00000517439.1_Silent_p.L16L|TMEM70_ENST00000523794.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	16					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			AACTGCCTCTCTGCGGAAGGA	0.716000													3	13					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200794	23200794	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:23200794G>T	ENST00000300061.2	+	3	563	c.420G>T	c.(418-420)gcG>gcT	p.A140A		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	140					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCGAGAGGCGGAGTCCTGGA	0.582000													29	79					4.22769e-11	5.74917e-11	1	1	0
SPTB	6710	broad.mit.edu	37	14	65259997	65259997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:65259997C>T	ENST00000389722.3	-	13	2437	c.2384G>A	c.(2383-2385)aGc>aAc	p.S795N	SPTB_ENST00000542895.1_Missense_Mutation_p.S795N|SPTB_ENST00000556626.1_Missense_Mutation_p.S795N|SPTB_ENST00000389720.3_Missense_Mutation_p.S795N|SPTB_ENST00000389721.5_Missense_Mutation_p.S795N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	795					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCCCACGGCTCTCCTCCAG	0.657000													7	64					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955392	57955392	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:57955392C>T	ENST00000334181.4	+	3	1126	c.876C>T	c.(874-876)ctC>ctT	p.L292L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGAGATTCTCAGTAGACCAA	0.453000													16	50					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76349083	76349083	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:76349083G>T	ENST00000298832.9	+	30	3783	c.3578G>T	c.(3577-3579)gGt>gTt	p.G1193V	TTLL5_ENST00000557636.1_Missense_Mutation_p.G1208V|TTLL5_ENST00000554510.1_Missense_Mutation_p.G702V|TTLL5_ENST00000556893.1_Missense_Mutation_p.G744V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1193					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGAATAATGGTGCAGGTTGT	0.448000													7	53					1.58986e-06	1.92369e-06	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2673851	2673851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:2673851G>A	ENST00000324666.5	+	11	1561	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	FAM193A_ENST00000382839.3_Missense_Mutation_p.E404K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E404K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E404K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E426K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	404										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTCTTAGGCTGAACAAGCTCC	0.408000													15	46					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764375	92764375	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:92764375C>T	ENST00000318238.4	-	5	2126	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V304I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V304I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	304										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCAATGACAAATCTGTCA	0.338000													20	102					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479348	149479348	+	RNA	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:149479348G>T	ENST00000378016.2	+	0	1861							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCATCTCCGTCTCCCTGGA	0.627000													3	9					1	1	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56226547	56226547	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:56226547G>T	ENST00000332836.2	-	6	2402	c.2375C>A	c.(2374-2376)tCc>tAc	p.S792Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	792						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGGACTTCGGAAATGGAGTC	0.527000													6	22					3.59834e-05	4.09588e-05	1	1	0
ANKZF1	55139	broad.mit.edu	37	2	220097299	220097299	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:220097299T>G	ENST00000323348.5	+	5	626	c.452T>G	c.(451-453)tTt>tGt	p.F151C	ANKZF1_ENST00000410034.3_Missense_Mutation_p.F151C|ANKZF1_ENST00000409849.1_5'UTR	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	151						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCTACATTTGAGAAGTTG	0.532000													5	39					0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724744	217724744	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:217724744C>A	ENST00000236979.2	-	1	43	c.14G>T	c.(13-15)cGc>cTc	p.R5L	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	5					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTAATTTGCGGCTGGTCGA	0.532000													27	28					3.6726e-16	5.30743e-16	1	1	0
DGKG	1608	broad.mit.edu	37	3	185978270	185978270	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:185978270G>T	ENST00000265022.3	-	16	1921	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H	DGKG_ENST00000544847.1_Missense_Mutation_p.P402H|DGKG_ENST00000382164.4_Missense_Mutation_p.P422H|DGKG_ENST00000344484.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	461	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AACTTGTTTGGGGTTGAGCAG	0.428000													6	15					3.59834e-05	4.09588e-05	1	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319567	130319567	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:130319567C>A	ENST00000299164.2	+	1	699	c.699C>A	c.(697-699)ttC>ttA	p.F233L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	233	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGGTCAAGTTCCACGGCGCGG	0.627000											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0.00024832	0.000275182	1	1	0
TRHR	7201	broad.mit.edu	37	8	110100022	110100022	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:110100022G>T	ENST00000518632.1	+	2	632	c.281G>T	c.(280-282)gGc>gTc	p.G94V	TRHR_ENST00000311762.2_Missense_Mutation_p.G94V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	94						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGGGTCTATGGCTATGTTGGA	0.478000													14	152					4.7546e-09	6.20927e-09	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10468279	10468279	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:10468279C>A	ENST00000382483.3	-	4	3552	c.3329G>T	c.(3328-3330)aGg>aTg	p.R1110M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1110					intracellular signal transduction					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)		GCAGCTGAGCCTCCTGGCCAT	0.622000													13	53					1.3612e-06	1.6645e-06	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27803638	27803638	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:27803638G>A	ENST00000408964.2	+	1	4250	c.4199G>A	c.(4198-4200)tGc>tAc	p.C1400Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1400										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGGACTATTGCTTACCAAGC	0.483000													13	48					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362968	228362968	+	Silent	SNP	C	C	T	rs144270250		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:228362968C>T	ENST00000366711.3	+	3	827	c.825C>T	c.(823-825)atC>atT	p.I275I	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.I82I	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	275					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						TGGGCGTCATCCGCAAGCGCC	0.637000													14	40					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70499044	70499044	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:70499044G>T	ENST00000288078.6	+	4	482	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	FUK_ENST00000378912.2_Missense_Mutation_p.V116F|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	84						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CACATCCGATGTCCTGCACTC	0.582000													9	35					9.31168e-06	1.10352e-05	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670339	186670339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:186670339G>A	ENST00000343098.5	+	17	16573	c.16573G>A	c.(16573-16575)Gag>Aag	p.E5525K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5436K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGTGCAAAAGAGAACCAACT	0.358000													11	32					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075016	83075016	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:83075016G>T	ENST00000369750.3	+	2	955	c.338G>T	c.(337-339)cGc>cTc	p.R113L	TPBG_ENST00000535040.1_Missense_Mutation_p.R113L|TPBG_ENST00000543496.1_Missense_Mutation_p.R113L			Q13641	TPBG_HUMAN	trophoblast glycoprotein	113					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCCTTCGCCCGCCGGCCGCCG	0.741000													2	1					0.004672	0.00492859	1	1	0
ANKS4B	257629	broad.mit.edu	37	16	21245065	21245065	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:21245065A>T	ENST00000311620.5	+	1	80	c.7A>T	c.(7-9)Act>Tct	p.T3S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	3										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AAAAATGTCTACTCGTTACCA	0.473000													49	222					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113678550	113678550	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:113678550C>G	ENST00000297405.5	-	17	3016	c.2772G>C	c.(2770-2772)gtG>gtC	p.V924V	CSMD3_ENST00000343508.3_Silent_p.V884V|CSMD3_ENST00000455883.2_Silent_p.V820V|CSMD3_ENST00000352409.3_Silent_p.V924V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	924	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGCTTCAATCACCCACTCAC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	120					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112654629	112654629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:112654629C>T	ENST00000550722.1	-	47	7290	c.6895G>A	c.(6895-6897)Gag>Aag	p.E2299K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E2273K|HECTD4_ENST00000430131.2_Missense_Mutation_p.E2023K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCTCGCTTCTCTGCTTCTGTA	0.478000													14	63					0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158710244	158710244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:158710244C>G	ENST00000296786.6	+	10	1152	c.826C>G	c.(826-828)Cta>Gta	p.L276V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	276	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAAGCGCACCTAAATCGTGA	0.303000													13	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478567	179478567	+	Silent	SNP	T	T	G	rs74321406	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:179478567T>G	ENST00000589042.1	-	263	49667	c.49443A>C	c.(49441-49443)ccA>ccC	p.P16481P	TTN_ENST00000342175.6_Silent_p.P7608P|TTN_ENST00000591111.1_Silent_p.P14840P|TTN_ENST00000460472.2_Silent_p.P7416P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P13913P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P7541P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14840	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTGTGATTGGGCTGCCAC	0.463000													23	67					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900804	3900804	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:3900804C>A	ENST00000262367.5	-	2	1101	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	CREBBP_ENST00000382070.3_Missense_Mutation_p.G98C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	98					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACCCAGGCCCTGCTGCACG	0.592000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	35					0.00909568	0.00944394	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908440	103908440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:103908440G>C	ENST00000302259.3	+	1	1133	c.890G>C	c.(889-891)aGa>aCa	p.R297T	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	297					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCACACAGAGAATTATTGGC	0.483000													22	19					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87971349	87971349	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:87971349A>T	ENST00000369577.3	+	8	8045	c.8002A>T	c.(8002-8004)Att>Ttt	p.I2668F	ZNF292_ENST00000339907.4_Missense_Mutation_p.I2663F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGTAAAAATTGTTTTAGA	0.368000													3	9					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793832	215793832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:215793832G>A	ENST00000259154.4	+	18	2614	c.2320G>A	c.(2320-2322)Gcg>Acg	p.A774T	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	774						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCCTATCTGGCGTCATCACC	0.433000													8	68					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374919	135374919	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:135374919G>T	ENST00000343036.2	+	4	612	c.564G>T	c.(562-564)caG>caT	p.Q188H	C9orf171_ENST00000393216.2_Missense_Mutation_p.Q152H|C9orf171_ENST00000393215.3_Missense_Mutation_p.Q152H	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	188										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TCAGTGACCAGGATGACCGGC	0.592000													11	63					6.94344e-10	9.27805e-10	1	1	0
BAIAP2	10458	broad.mit.edu	37	17	79080679	79080679	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:79080679A>G	ENST00000321300.6	+	12	1565	c.1472A>G	c.(1471-1473)tAc>tGc	p.Y491C	BAIAP2_ENST00000435091.3_Missense_Mutation_p.Y491C|BAIAP2_ENST00000428708.2_Missense_Mutation_p.Y491C|BAIAP2_ENST00000575245.1_Missense_Mutation_p.Y524C|BAIAP2_ENST00000321280.7_Missense_Mutation_p.Y491C|BAIAP2_ENST00000575712.1_Missense_Mutation_p.Y491C|BAIAP2_ENST00000416299.2_Missense_Mutation_p.Y354C|BAIAP2_ENST00000392411.3_Missense_Mutation_p.Y413C	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	491					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGAGGCCCTACAGTGTGGCC	0.726000													3	20					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199221	155199221	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:155199221C>A	ENST00000460012.1	-	23	4861	c.4504G>T	c.(4504-4506)Gat>Tat	p.D1502Y	PLCH1_ENST00000340059.7_Missense_Mutation_p.D1540Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1502Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1502Y|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1540					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCAGGGCATCTATAGGCTCT	0.478000													35	62					1.57351e-24	2.30283e-24	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42587518	42587518	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:42587518C>T	ENST00000289957.2	+	5	1196	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	356					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGATCGCTACTCATCCCCAG	0.443000													10	40					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75117829	75117829	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:75117829C>T	ENST00000309664.5	+	14	1603	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.N476N	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	488						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGAGCTGAACAAGAGCCTTC	0.567000													35	106					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899621	128899621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:128899621C>T	ENST00000435159.2	+	2	430	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	144						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CTACCTGAGCCGGCCCAAAGT	0.502000													10	1					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148875203	148875203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:148875203C>T	ENST00000296051.2	+	9	1716	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	HPS3_ENST00000460120.1_Missense_Mutation_p.H361Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	526						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGTGAGGCTCATCTGTTAGT	0.463000									Hermansky-Pudlak syndrome				18	73					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714143	133714143	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:133714143C>G	ENST00000299140.3	-	4	411	c.357G>C	c.(355-357)tgG>tgC	p.W119C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W119C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	119					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCTTACCTCCATCTTATGA	0.532000													7	46					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9497562	9497562	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:9497562G>T	ENST00000352665.5	+	4	529	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	WDR16_ENST00000396219.3_Missense_Mutation_p.A86S|WDR16_ENST00000576499.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.A164S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	154						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGCCCTGCAGCCGGCCTCAA	0.488000													6	87					0.0215528	0.0219819	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10166513	10166513	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:10166513C>T	ENST00000343090.6	+	7	1143	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	356					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCCCTGCCCTCGCCAGTAGCC	0.672000													11	42					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540700	65540700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:65540700G>A	ENST00000356388.4	-	6	1381	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	SPRED2_ENST00000443619.2_Missense_Mutation_p.R395W	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	398	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TAGCAGGCCCGAAGGGGCAGG	0.597000													3	43					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18860575	18860575	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:18860575C>A	ENST00000446231.2	-	36	5999	c.5587G>T	c.(5587-5589)Ggt>Tgt	p.G1863C	SMG1_ENST00000389467.3_Missense_Mutation_p.G1863C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1863	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATATGGTACCCACTATTGCA	0.408000													5	14					3.59834e-05	4.09588e-05	1	1	0
PSD2	84249	broad.mit.edu	37	5	139193193	139193193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:139193193G>A	ENST00000274710.3	+	3	876	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	224					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGCGGCGCTCCATCTCC	0.662000													12	2					0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12043918	12043918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:12043918C>A	ENST00000448228.2	-	5	632	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	FAM86B1_ENST00000533852.2_Missense_Mutation_p.D229Y|FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	195										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		ATTGCTACGTCCCAGTCCAGC	0.587000													3	25					2.7689e-08	3.54573e-08	1	1	0
FGF7	2252	broad.mit.edu	37	15	49716576	49716576	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:49716576A>G	ENST00000267843.4	+	2	693	c.82A>G	c.(82-84)Ata>Gta	p.I28V	FGF7_ENST00000560270.1_Missense_Mutation_p.I28V|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	28					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AGTGGGTACTATATCTTTAGC	0.433000													39	52					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390281	48390281	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:48390281G>T	ENST00000224600.4	-	1	710	c.597C>A	c.(595-597)atC>atA	p.I199I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	199	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCGGTTGTAGATAGTGTCCA	0.597000													8	35					0.0581538	0.0590504	1	1	0
MRPL47	57129	broad.mit.edu	37	3	179306767	179306767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:179306767G>A	ENST00000476781.1	-	7	675	c.646C>T	c.(646-648)Cga>Tga	p.R216*	MRPL47_ENST00000392659.2_Nonsense_Mutation_p.R106*|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.R196*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	216					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			ATGCGGGCTCGTTTCTCACGT	0.318000													11	81					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132032137	132032137	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:132032137G>T	ENST00000314099.8	-	1	69	c.21C>A	c.(19-21)acC>acA	p.T7T	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	7						integral to membrane				endometrium(1)|lung(1)	2						AGGGCTGAGGGGTAGCACCAG	0.582000													6	19					0.000157383	0.000174828	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588182	247588182	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:247588182C>G	ENST00000366497.2	+	4	2217	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.N479K|NLRP3_ENST00000336119.3_Missense_Mutation_p.N479K|NLRP3_ENST00000348069.2_Missense_Mutation_p.N479K|NLRP3_ENST00000391827.2_Missense_Mutation_p.N479K|NLRP3_ENST00000366496.2_Missense_Mutation_p.N479K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	479	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAATCTGGAACCAGAAAATCC	0.572000													12	18					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771704	45771704	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:45771704A>G	ENST00000327619.5	+	10	1269	c.895A>G	c.(895-897)Acg>Gcg	p.T299A	EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_Missense_Mutation_p.T299A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	299					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCAGGACACCACGACGTCCGT	0.498000													10	32					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682419	19682419	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:19682419C>T	ENST00000397977.3	+	8	1340	c.942C>T	c.(940-942)acC>acT	p.T314T		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	314					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGTATTCCACCATGCTGGTCT	0.378000													15	41					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504899	95504899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:95504899C>T	ENST00000297591.5	-	21	4864	c.4789G>A	c.(4789-4791)Gag>Aag	p.E1597K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1597					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATAAAGGTCTCATGCTTGTGC	0.358000													17	102					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712465	152712465	+	Missense_Mutation	SNP	C	C	T	rs147040672	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:152712465C>T	ENST00000367255.5	-	52	8552	c.7951G>A	c.(7951-7953)Gag>Aag	p.E2651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2690K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2651					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			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)		AGAGTGCTCTCTGCACAGGCC	0.547000										HNSCC(10;0.0054)			12	26					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696058	31696058	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:31696058G>A	ENST00000375792.3	-	5	1113	c.483C>T	c.(481-483)gtC>gtT	p.V161V	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375787.2_Silent_p.V161V|DDAH2_ENST00000375789.2_Silent_p.V161V			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	161					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GCACAGTGGAGACGGCGAAGT	0.632000													4	35					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871954	51871954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:51871954G>T	ENST00000371497.5	+	2	2844	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E650*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E650*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	653					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCCTGAAGGAGGAGGAGAA	0.582000													4	29					0.00909568	0.00944394	1	1	0
RFWD2	64326	broad.mit.edu	37	1	175996748	175996748	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:175996748G>A	ENST00000367669.3	-	15	2203	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	RFWD2_ENST00000308769.8_Silent_p.F539F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	563					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGAGGGGCTGAATTTAACAC	0.418000													13	35					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214794	204214794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:204214794C>A	ENST00000272203.3	-	14	2297	c.1981G>T	c.(1981-1983)Ggg>Tgg	p.G661W	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G681W	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	661								p.G661R(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTCCTCAGCCCCTCCATCACG	0.592000													12	52					4.93089e-13	6.86749e-13	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670945	186670945	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:186670945C>A	ENST00000343098.5	+	17	17179	c.17179C>A	c.(17179-17181)Cta>Ata	p.L5727I	FSIP2_ENST00000424728.1_Missense_Mutation_p.L5638I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAGAGAAATCTAGGGACTAC	0.388000													5	30					0.000602214	0.000659432	1	1	0
PYGL	5836	broad.mit.edu	37	14	51378473	51378473	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:51378473G>A	ENST00000216392.7	-	16	2276	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	PYGL_ENST00000532462.1_Silent_p.N648N|PYGL_ENST00000544180.2_Silent_p.N614N	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	648					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATACTCTGTAGTTCTCCAAGA	0.438000													15	59					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155279692	155279692	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:155279692G>T	ENST00000356657.6	+	2	274	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	FDPS_ENST00000368356.4_Missense_Mutation_p.G38W|FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	38					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCTGGTGCACGGGTACCCAGT	0.692000													6	13					0.00116845	0.00125854	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996495	20996495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:20996495C>G	ENST00000261383.3	-	48	7568	c.7569G>C	c.(7567-7569)aaG>aaC	p.K2523N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2523	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGATGTCAGCCTTCTCGTCAG	0.483000													14	107					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046402	62046402	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:62046402G>T	ENST00000354587.3	-	11	1471	c.1295C>A	c.(1294-1296)gCc>gAc	p.A432D	KCNQ2_ENST00000359125.2_Missense_Mutation_p.A460D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A442D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A460D|KCNQ2_ENST00000344462.4_Missense_Mutation_p.A430D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A432D|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A432D			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	460					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CACAGTCTGGGCCTGCGGGGA	0.677000													5	25					0.184627	0.185837	1	1	0
GAS8	2622	broad.mit.edu	37	16	90094077	90094077	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:90094077A>C	ENST00000268699.4	+	2	159	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	GAS8_ENST00000536122.1_5'UTR|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	13	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGCAAAGCCAAAGGCACCCC	0.582000													3	22					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660041	77660041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:77660041C>G	ENST00000296043.6	+	5	1668	c.715C>G	c.(715-717)Cct>Gct	p.P239A	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	239					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCATCTTTCCCCTGCCAAGTC	0.567000													7	54					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67084354	67084354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:67084354C>A	ENST00000284425.2	-	28	3826	c.3652G>T	c.(3652-3654)Gaa>Taa	p.E1218*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1218					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATTTTAGTTCCATGCATCTT	0.299000													5	36					3.59834e-05	4.09588e-05	1	1	0
SLX4IP	128710	broad.mit.edu	37	20	10536902	10536902	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:10536902G>A	ENST00000334534.5	+	3	231	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		CTGTCCTCGTGGATCTTCATA	0.398000													7	54					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30019030	30019030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:30019030C>A	ENST00000346128.6	-	17	2740	c.2266G>T	c.(2266-2268)Gag>Tag	p.E756*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.E756*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.E760*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.E756*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	756	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGAGATCGCTCGTATAACTTC	0.358000													15	56					0.000422831	0.000467447	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20484037	20484037	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:20484037G>A	ENST00000202677.7	-	35	5173	c.5166C>T	c.(5164-5166)tcC>tcT	p.S1722S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCATTCGAGTGGAAACATGGA	0.552000													9	39					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67084355	67084355	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:67084355C>A	ENST00000284425.2	-	28	3825	c.3651G>T	c.(3649-3651)atG>atT	p.M1217I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1217					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTTAGTTCCATGCATCTTA	0.294000													5	37					3.59834e-05	4.09588e-05	1	1	0
WIBG	84305	broad.mit.edu	37	12	56295980	56295980	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:56295980C>T	ENST00000408946.2	-	3	442	c.291G>A	c.(289-291)agG>agA	p.R97R	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Silent_p.R96R|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_3'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	97					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCTGCTGCCGCCTCTTCTCCT	0.592000													18	15					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126517396	126517396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:126517396C>A	ENST00000298492.5	+	6	575	c.530C>A	c.(529-531)tCa>tAa	p.S177*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	177						BRISC complex	polyubiquitin binding			NS(1)	1						AAAGTGTCTTCAGTGCCAAAT	0.358000													14	31					1.05317e-09	1.39917e-09	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184293738	184293738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:184293738G>A	ENST00000330394.2	+	4	1429	c.977G>A	c.(976-978)cGt>cAt	p.R326H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	326	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AACTTCTACCGTGCAGACTCG	0.637000													25	84					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503522	32503522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:32503522G>A	ENST00000327300.7	+	6	1159	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R292Q|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	331	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTGTGACTCGAGGCGTGCCA	0.607000													30	56					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832601	11832601	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:11832601T>C	ENST00000341191.6	-	4	1901	c.1748A>G	c.(1747-1749)tAt>tGt	p.Y583C	ZNF823_ENST00000545749.1_Missense_Mutation_p.Y401C	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTTACATTCATACAGCTTCTC	0.423000										HNSCC(68;0.2)			22	59					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11888504	11888504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:11888504C>G	ENST00000357901.4	+	2	184	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGAAGAGTCTCTACAGAGA	0.433000													10	49					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43013765	43013765	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:43013765C>A	ENST00000535468.1	-	13	3063	c.2977G>T	c.(2977-2979)Ggg>Tgg	p.G993W	CUL7_ENST00000265348.3_Missense_Mutation_p.G909W|CUL7_ENST00000478630.1_5'UTR	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	909	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTATCACCCCCGCACACCACC	0.562000													10	21					1.58986e-06	1.92369e-06	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38105339	38105339	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:38105339G>T	ENST00000308059.6	+	6	1123	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.D368Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.D368Y|DLEC1_ENST00000469151.1_3'UTR			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	368					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGTTGTGCTGATACTCCAGT	0.378000													21	42					1.96895e-08	2.53543e-08	1	1	0
SPINK5	11005	broad.mit.edu	37	5	147470762	147470762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:147470762G>A	ENST00000359874.3	+	8	710	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Missense_Mutation_p.E213K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E213K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	213	Kazal-like 3.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGAGGGTGAAACTAGAAT	0.358000													13	13					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482425	20482425	+	Nonsense_Mutation	SNP	G	G	A	rs149149480	byFrequency	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:20482425G>A	ENST00000305045.2	-	1	927	c.928C>T	c.(928-930)Caa>Taa	p.Q310*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATTTCATTGAAAAGTCACC	0.358000													45	50					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71098904	71098904	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:71098904G>T	ENST00000396396.1	+	9	1648	c.1419G>T	c.(1417-1419)gtG>gtT	p.V473V		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	473					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCTACAGCGTGGCGAAGACGG	0.502000													8	57					3.09899e-07	3.84041e-07	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128015230	128015230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:128015230G>A	ENST00000493187.2	-	15	2562	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	ERCC3_ENST00000285398.2_Missense_Mutation_p.S764L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	764	Asp/Glu-rich (acidic).|Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGCTCCGCGATGAGTGGTA	0.582000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				16	42					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33269216	33269216	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr18:33269216G>C	ENST00000269195.5	+	6	1043	c.940G>C	c.(940-942)Gat>Cat	p.D314H	GALNT1_ENST00000537549.1_Missense_Mutation_p.D254H	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	314	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGCTGGAATGGATATTTGGGG	0.333000													13	59					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44815901	44815901	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:44815901G>T	ENST00000326047.4	+	2	183	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	12					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTACGCAGCGTGACAAATGG	0.353000													6	19					0.00307968	0.00326375	1	1	0
PSG2	5670	broad.mit.edu	37	19	43586687	43586687	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:43586687T>G	ENST00000406487.1	-	1	133	c.35A>C	c.(34-36)cAc>cCc	p.H12P	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	12					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCATTTGATGTGCTCTGTGCA	0.582000													24	77					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66432736	66432736	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:66432736C>T	ENST00000383703.3	-	17	3112	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Missense_Mutation_p.E860K|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	860						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGCCACCCTCGGTCCTGACC	0.562000													28	18					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395099	29395099	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:29395099G>C	ENST00000377149.1	-	5	792	c.320C>G	c.(319-321)tCt>tGt	p.S107C	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.S107C|OR11A1_ENST00000377148.1_Missense_Mutation_p.S107C			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGTGGCTAGAGAGCCGAAGAT	0.532000													7	20					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954325	95954325	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:95954325G>T	ENST00000317620.9	+	22	2562	c.2429G>T	c.(2428-2430)cGg>cTg	p.R810L	PROM2_ENST00000542147.1_Missense_Mutation_p.R761L|PROM2_ENST00000403131.2_Missense_Mutation_p.R810L|PROM2_ENST00000317668.4_Missense_Mutation_p.R810L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	810						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTCCTATCCGGAAACGCCTC	0.602000													21	75					6.44725e-10	8.66526e-10	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67003941	67003941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:67003941C>G	ENST00000340001.4	-	25	3605	c.3394G>C	c.(3394-3396)Ggg>Cgg	p.G1132R	ABCA9_ENST00000370732.2_Missense_Mutation_p.G1132R|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1132					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTTTTCTCCCATTGCGAAAA	0.308000													16	73					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758785	55758785	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:55758785G>T	ENST00000395863.3	-	4	1456	c.951C>A	c.(949-951)aaC>aaA	p.N317K	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.N317K|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	317					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TACCTGCCACGTTGGCCATCC	0.637000													10	54					0.00136819	0.00147025	1	1	0
SPAG9	9043	broad.mit.edu	37	17	49075839	49075839	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:49075839C>A	ENST00000262013.7	-	15	2012	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	SPAG9_ENST00000510283.1_Missense_Mutation_p.D445Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.D592Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.D588Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	602					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTGGACTTATCCCCAGGGAGC	0.403000													20	85					7.33628e-21	1.07026e-20	1	1	0
CLHC1	130162	broad.mit.edu	37	2	55407695	55407695	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:55407695C>A	ENST00000401408.1	-	11	1680	c.1335G>T	c.(1333-1335)caG>caT	p.Q445H	CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Missense_Mutation_p.Q323H|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.Q445H	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		CCCTATGAGTCTGACCCTGTT	0.403000													17	52					7.45023e-12	1.02524e-11	1	1	0
EIF2S1	1965	broad.mit.edu	37	14	67843249	67843249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:67843249G>A	ENST00000256383.4	+	4	876	c.415G>A	c.(415-417)Gat>Aat	p.D139N	EIF2S1_ENST00000466499.2_Missense_Mutation_p.D139N	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	139						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGGGTCTTTGATGACAAGTA	0.433000													12	39					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329835	137329835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:137329835C>A	ENST00000367748.1	-	4	878	c.292G>T	c.(292-294)Gag>Tag	p.E98*	IL20RA_ENST00000316649.5_Nonsense_Mutation_p.E209*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.E160*|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	209	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTGTTCGGCTCCAGCCAGGTG	0.572000													14	21					2.61681e-11	3.56909e-11	1	1	0
NKG7	4818	broad.mit.edu	37	19	51875702	51875702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:51875702C>G	ENST00000221978.5	-	1	267	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	NKG7_ENST00000595217.1_Missense_Mutation_p.E30Q|NKG7_ENST00000600427.1_Missense_Mutation_p.E30Q	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	30						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCACAGCCTCAAACCAGAAA	0.602000													60	36					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164495	139164495	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:139164495G>C	ENST00000395297.1	-	13	2393	c.2223C>G	c.(2221-2223)agC>agG	p.S741R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	741										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)			CCTGGATGCCGCTTGGCAAAC	0.527000										HNSCC(54;0.14)			9	23					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130717142	130717142	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:130717142G>T	ENST00000510168.1	+	26	2946	c.2396G>T	c.(2395-2397)cGa>cTa	p.R799L	ATP2C1_ENST00000504948.1_Missense_Mutation_p.R783L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R783L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R799L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R833L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R794L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R744L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R799L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R799L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R783L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R799L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R799L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R783L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	799					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGACAGCTACGAGACAATGTG	0.348000									Hailey-Hailey disease				12	51					0.00185496	0.00198869	1	1	0
CACUL1	143384	broad.mit.edu	37	10	120450859	120450859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:120450859G>A	ENST00000369151.3	-	7	1426	c.943C>T	c.(943-945)Ccg>Tcg	p.P315S	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TCCACCGCCGGAGGGAGAATG	0.358000													33	98					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374920	135374920	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:135374920G>T	ENST00000343036.2	+	4	613	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	C9orf171_ENST00000393216.2_Missense_Mutation_p.D153Y|C9orf171_ENST00000393215.3_Missense_Mutation_p.D153Y	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	189										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CAGTGACCAGGATGACCGGCG	0.592000													11	64					6.94344e-10	9.27805e-10	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411219	105411219	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:105411219A>C	ENST00000333244.5	-	7	10688	c.10569T>G	c.(10567-10569)atT>atG	p.I3523M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3523						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.667000													33	173					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823805	74823805	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:74823805C>G	ENST00000256362.4	+	2	560	c.319C>G	c.(319-321)Cgc>Ggc	p.R107G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	107					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGCGGGCCCGCACCGTGGT	0.642000													4	9					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63008326	63008326	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:63008326C>G	ENST00000251157.5	-	25	3031	c.2998G>C	c.(2998-3000)Gtt>Ctt	p.V1000L	DOCK7_ENST00000340370.5_Missense_Mutation_p.V969L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1000					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATTCCCGAACGCTGCCACTG	0.378000													9	38					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383181	235383181	+	Missense_Mutation	SNP	C	C	G	rs139156857		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:235383181C>G	ENST00000264183.3	-	16	2007	c.1510G>C	c.(1510-1512)Gat>Cat	p.D504H	ARID4B_ENST00000366603.2_Missense_Mutation_p.D504H|ARID4B_ENST00000349213.3_Missense_Mutation_p.D504H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	504	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GTGTCATCATCTTTGTCATCC	0.323000													8	36					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240978053	240978053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:240978053C>G	ENST00000366565.1	-	12	1189	c.808G>C	c.(808-810)Gat>Cat	p.D270H	RGS7_ENST00000366562.4_Missense_Mutation_p.D270H|RGS7_ENST00000366564.1_Missense_Mutation_p.D270H|RGS7_ENST00000407727.1_Missense_Mutation_p.D270H|RGS7_ENST00000401882.1_Missense_Mutation_p.D217H|RGS7_ENST00000331110.7_Missense_Mutation_p.D244H|RGS7_ENST00000348120.2_Missense_Mutation_p.D217H|RGS7_ENST00000446183.2_Missense_Mutation_p.D186H|RGS7_ENST00000366563.1_Missense_Mutation_p.D270H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	270	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.D270N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CGATGTCTATCTAACTGTATT	0.299000													15	60					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75513242	75513242	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:75513242C>T	ENST00000380968.2	-	0	3332				MLH3_ENST00000556740.1_Silent_p.T1039T|MLH3_ENST00000355774.2_Silent_p.T1039T|MLH3_ENST00000238662.7_Silent_p.T1039T|MLH3_ENST00000556257.1_Silent_p.T1039T|MLH3_ENST00000544985.1_Silent_p.T34T|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3						mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTGAACAACACGTGTTTGACT	0.443000								Mismatch excision repair (MMR)					22	71					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158884	39158884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:39158884C>T	ENST00000359534.3	-	5	1620	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	428					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCTGAGAGGCCAGCCTCCGTG	0.632000													8	16					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121615100	121615100	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:121615100G>T	ENST00000328963.5	+	10	983	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Splice_Site_p.A257S|P2RX7_ENST00000546057.1_Splice_Site_p.A347S|P2RX7_ENST00000541446.1_Splice_Site_p.A58S			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	347						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTCCCCAGGCCGCTGTGTT	0.498000													10	72					0.00829132	0.00870683	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56132916	56132916	+	Silent	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:56132916A>G	ENST00000508342.1	-	16	3404	c.3105T>C	c.(3103-3105)taT>taC	p.Y1035Y	NEDD4_ENST00000506154.1_Silent_p.Y1019Y|NEDD4_ENST00000435532.3_Silent_p.Y616Y|NEDD4_ENST00000338963.2_Silent_p.Y963Y	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1035	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTGTAGGGTATAATTGTCCC	0.338000													50	65					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121577266	121577266	+	Silent	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:121577266A>G	ENST00000275159.6	-	16	1898	c.1899T>C	c.(1897-1899)taT>taC	p.Y633Y	TBC1D32_ENST00000398212.2_Silent_p.Y633Y					TBC1 domain family, member 32																		CATGCAAATTATAAGTGATTA	0.338000													15	13					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54990867	54990867	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:54990867A>T	ENST00000316881.4	-	1	532	c.483T>A	c.(481-483)aaT>aaA	p.N161K	TRIM25_ENST00000537230.1_Missense_Mutation_p.N161K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	161					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CCCGCAGCCGATTGTGCTGGG	0.647000													6	27					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87638222	87638222	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:87638222C>T	ENST00000320005.5	-	13	1614	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	523					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGAACAAGTCGACTTTGCTG	0.368000													34	61					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74464345	74464345	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:74464345C>T	ENST00000355780.5	-	12	1554	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	STAU2_ENST00000517542.1_Missense_Mutation_p.E440K|STAU2_ENST00000522509.1_Missense_Mutation_p.E446K|STAU2_ENST00000523558.1_Missense_Mutation_p.E306K|STAU2_ENST00000521727.1_Missense_Mutation_p.E458K|STAU2_ENST00000521451.1_Missense_Mutation_p.E258K|STAU2_ENST00000521210.1_Missense_Mutation_p.E374K|STAU2_ENST00000522695.1_Missense_Mutation_p.E446K|STAU2_ENST00000519961.1_Missense_Mutation_p.E478K|STAU2_ENST00000524300.1_Missense_Mutation_p.E478K	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	478	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CCTATGGCTTCAGCTGTAGAA	0.418000													15	91					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131219717	131219717	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:131219717G>T	ENST00000434106.3	+	2	395		c.e2+1		ODF2_ENST00000448249.3_Intron|ODF2_ENST00000372791.3_Splice_Site|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000393527.3_Splice_Site|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Splice_Site	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTCCCCCAGGTATTGCCGAT	0.652000													16	54					2.23348e-06	2.68835e-06	1	1	0
ST7	7982	broad.mit.edu	37	7	116759719	116759719	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:116759719C>A	ENST00000265437.5	+	3	553	c.339C>A	c.(337-339)tcC>tcA	p.S113S	ST7_ENST00000393449.1_Silent_p.S113S|ST7_ENST00000323984.3_Silent_p.S113S|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393444.3_Silent_p.S70S|ST7_ENST00000432298.1_Silent_p.S67S|ST7_ENST00000393447.4_Silent_p.S70S|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393451.3_Silent_p.S113S|ST7_ENST00000393446.2_Silent_p.S113S|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000465133.1_Silent_p.S70S|ST7_ENST00000393443.1_Silent_p.S63S|ST7_ENST00000422922.1_Silent_p.S67S|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	113						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAACTCTTCCAACAATTCTA	0.418000													23	85					3.08376e-08	3.91629e-08	1	1	0
FUK	197258	broad.mit.edu	37	16	70499067	70499067	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:70499067C>T	ENST00000288078.6	+	4	505	c.273C>T	c.(271-273)ctC>ctT	p.L91L	FUK_ENST00000378912.2_Silent_p.L123L|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	91						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGATCCTCATTCTGCACA	0.587000													7	29					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976784	119976784	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:119976784G>T	ENST00000313400.4	-	3	968	c.868C>A	c.(868-870)Ctg>Atg	p.L290M	ASTN2_ENST00000373996.3_Missense_Mutation_p.L290M|ASTN2_ENST00000361209.2_Missense_Mutation_p.L290M|ASTN2_ENST00000361477.3_De_novo_Start_InFrame			O75129	ASTN2_HUMAN	astrotactin 2	290						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGTCATCCAGGATGGGAGTC	0.617000													9	26					0.000442599	0.000486965	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14563218	14563218	+	RNA	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:14563218C>A	ENST00000273083.3	-	0	708							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGGCCAGGGCGGTGGCATGG	0.662000													3	8					0.115264	0.116784	1	1	0
OR51A4	401666	broad.mit.edu	37	11	4968101	4968101	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:4968101A>G	ENST00000380373.2	-	1	255	c.230T>C	c.(229-231)tTa>tCa	p.L77S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAGATGATAAAGACAAACC	0.423000													22	76					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827607	45827607	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:45827607G>T	ENST00000314134.3	+	1	1651	c.255G>T	c.(253-255)acG>acT	p.T85T	SLC35C1_ENST00000442528.2_Silent_p.T72T|SLC35C1_ENST00000456334.1_Silent_p.T72T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	85						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTGACCACGCTGCTGTGCA	0.647000													13	16					5.50884e-06	6.5963e-06	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79460531	79460531	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:79460531C>A	ENST00000264895.6	+	73	11822	c.11382C>A	c.(11380-11382)ttC>ttA	p.F3794L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3789					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCCTGATTTCCATGTGGTCA	0.433000													23	109					3.5997e-14	5.10603e-14	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21177810	21177810	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:21177810C>A	ENST00000602326.1	-	26	4146	c.3563G>T	c.(3562-3564)gGa>gTa	p.G1188V	EIF4G3_ENST00000536266.1_Missense_Mutation_p.G786V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1182V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G902V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G672V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1182V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1188V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1182					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCCACACCTCCTGTGAGCTG	0.488000													19	47					8.10497e-08	1.02087e-07	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													3	58					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54990865	54990865	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:54990865C>A	ENST00000316881.4	-	1	534	c.485G>T	c.(484-486)cGg>cTg	p.R162L	TRIM25_ENST00000537230.1_Missense_Mutation_p.R162L	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	162					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TTCCCGCAGCCGATTGTGCTG	0.652000													6	28					2.74318e-10	3.69768e-10	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139715555	139715555	+	Silent	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:139715555A>G	ENST00000303045.6	-	31	2999	c.2553T>C	c.(2551-2553)ccT>ccC	p.P851P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P851P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	851	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACAGTTCCAGGTAACCCGG	0.458000										HNSCC(7;0.00092)			12	24					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229999	20229999	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:20229999C>A	ENST00000043402.7	-	2	1095	c.657G>T	c.(655-657)ccG>ccT	p.P219P		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	219					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGAAGGCATGCGGGTGCACAT	0.657000													12	35					7.03913e-09	9.16677e-09	1	1	0
UFC1	51506	broad.mit.edu	37	1	161128200	161128200	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:161128200A>T	ENST00000368003.5	+	6	669		c.e6-1		RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1						protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTTGTATTGCAGCTGGGTCCA	0.468000													17	57					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241709124	241709124	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:241709124C>A	ENST00000498729.2	-	16	1588		c.e16-1		KIF1A_ENST00000320389.7_Splice_Site	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCTCTGTTTCCTGGGGATTGA	0.592000													8	20					1.76689e-08	2.28162e-08	1	1	0
PARL	55486	broad.mit.edu	37	3	183551359	183551359	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:183551359C>A	ENST00000317096.4	-	9	1009	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S	PARL_ENST00000311101.5_Missense_Mutation_p.A267S|PARL_ENST00000435888.1_Missense_Mutation_p.A233S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	317					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.A317T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTATCCATGGCGATAATGGCT	0.453000													13	81					9.31168e-06	1.10352e-05	1	1	0
SMG1	23049	broad.mit.edu	37	16	18860576	18860576	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:18860576C>A	ENST00000446231.2	-	36	5998	c.5586G>T	c.(5584-5586)gtG>gtT	p.V1862V	SMG1_ENST00000389467.3_Silent_p.V1862V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1862	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATATGGTACCCACTATTGCAG	0.413000													5	14					3.59834e-05	4.09588e-05	1	1	0
MUC6	4588	broad.mit.edu	37	11	1017908	1017908	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:1017908G>A	ENST00000421673.2	-	31	4943	c.4893C>T	c.(4891-4893)gtC>gtT	p.V1631V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1631	Approximate repeats.|Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGGGTGATGACTGTGTGAG	0.557000													7	318					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2233741	2233741	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:2233741G>C	ENST00000343516.6	-	16	1627	c.1535C>G	c.(1534-1536)aCg>aGg	p.T512R	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	512	SAM 1.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACCAATGGCCGTGAGGTCCTA	0.647000													7	21					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100637337	100637337	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:100637337C>A	ENST00000376335.3	+	2	1506	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	405					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTACACGCACCCCAGCTCGCT	0.662000													8	51					0.000673444	0.000733943	1	1	0
PARVG	64098	broad.mit.edu	37	22	44585085	44585085	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:44585085G>A	ENST00000444313.3	+	6	823	c.339G>A	c.(337-339)gtG>gtA	p.V113V	PARVG_ENST00000415224.1_Silent_p.V113V|PARVG_ENST00000422871.1_Silent_p.V113V	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGGAGGCCGTGAACCGGAGTC	0.652000													7	17					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201726121	201726121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:201726121C>T	ENST00000434813.2	-	3	690	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Missense_Mutation_p.R77K	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	77					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.R77I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAGTCATTTCTGTACTCATC	0.373000													13	63					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302399	123302399	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:123302399C>T	ENST00000458573.2	+	2	916	c.759C>T	c.(757-759)gaC>gaT	p.D253D	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	253						cytoskeleton	actin binding|tropomyosin binding										CGCATGCCGACGACAGTGCAG	0.517000													5	26					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28706698	28706698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:28706698G>A	ENST00000225719.4	+	1	776	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	234	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGCCCTGGACGAGGTGCCCGA	0.701000													3	5					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158883	39158883	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:39158883C>A	ENST00000359534.3	-	5	1621	c.1283G>T	c.(1282-1284)gGc>gTc	p.G428V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	428					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GTCTGAGAGGCCAGCCTCCGT	0.632000													8	16					0.000157383	0.000174828	1	1	0
AK9	221264	broad.mit.edu	37	6	109993130	109993130	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:109993130C>T	ENST00000424296.2	-	5	399	c.323G>A	c.(322-324)tGt>tAt	p.C108Y	AK9_ENST00000368948.2_Missense_Mutation_p.C108Y|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.C108Y	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ACCAAAGTGACAGACTTCTGG	0.393000													8	36					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89052292	89052292	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:89052292G>T	ENST00000237612.3	-	5	997	c.452C>A	c.(451-453)aCt>aAt	p.T151N	ABCG2_ENST00000515655.1_Missense_Mutation_p.T151N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	151	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATTCGTCATAGTTGTTGCAAG	0.413000													24	100					2.21704e-12	3.07847e-12	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158604372	158604372	+	Silent	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:158604372A>T	ENST00000368147.4	-	39	5706	c.5526T>A	c.(5524-5526)gcT>gcA	p.A1842A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCTCGGACAGCCAAAGCAT	0.398000													32	73					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123022914	123022914	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:123022914C>T	ENST00000462833.1	-	13	3771	c.2559G>A	c.(2557-2559)atG>atA	p.M853I	ADCY5_ENST00000491190.1_Splice_Site_p.M486I|ADCY5_ENST00000309879.5_Splice_Site_p.M503I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	853					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCCACCCACCATGTTGACAA	0.587000													12	18					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965118	7965118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:7965118C>G	ENST00000539278.1	-	1	3309	c.149G>C	c.(148-150)cGg>cCg	p.R50P	LRRC8E_ENST00000306708.6_Missense_Mutation_p.R571G																							CGATGGGGCCCGTCTGGTTGC	0.657000													10	25					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329836	137329836	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:137329836C>A	ENST00000367748.1	-	4	877	c.291G>T	c.(289-291)ctG>ctT	p.L97L	IL20RA_ENST00000316649.5_Silent_p.L208L|IL20RA_ENST00000541547.1_Silent_p.L159L|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	208	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTTCGGCTCCAGCCAGGTGA	0.567000													14	21					2.61681e-11	3.56909e-11	1	1	0
TPRKB	51002	broad.mit.edu	37	2	73957857	73957857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:73957857C>A	ENST00000318190.7	-	5	508	c.388G>T	c.(388-390)Gag>Tag	p.E130*	TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000409716.2_Nonsense_Mutation_p.E130*|TPRKB_ENST00000272424.5_Nonsense_Mutation_p.E91*			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	91					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TTCAAAGCCTCTGAAATCTAA	0.313000													11	85					2.80697e-09	3.69719e-09	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390464	208390464	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:208390464G>C	ENST00000367033.3	-	2	1561	c.804C>G	c.(802-804)atC>atG	p.I268M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	268	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGCGGAGTTGATGGCCACAC	0.572000													17	75					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64415128	64415128	+	Splice_Site	SNP	C	C	G	rs79964532		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:64415128C>G	ENST00000395251.1	+	4	462	c.128C>G	c.(127-129)tCa>tGa	p.S43*	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	43										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACAAAGTCAACACATCTA	0.468000													10	15					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158661	26158661	+	Silent	SNP	G	G	T	rs143992438		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:26158661G>T	ENST00000289316.2	+	1	288	c.264G>T	c.(262-264)tcG>tcT	p.S88S	HIST1H2BD_ENST00000377777.4_Silent_p.S88S	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	88					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACAAGCGCTCGACCATCACCT	0.622000													28	91					3.73148e-12	5.1658e-12	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10080577	10080577	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:10080577G>T	ENST00000264828.3	-	55	4043	c.3958C>A	c.(3958-3960)Cga>Aga	p.R1320R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1320	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGCCTTCTCGACCCATGTGG	0.622000													12	73					7.93312e-07	9.75245e-07	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100637338	100637338	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:100637338C>A	ENST00000376335.3	+	2	1507	c.1214C>A	c.(1213-1215)cCc>cAc	p.P405H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	405					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACACGCACCCCAGCTCGCTG	0.662000													8	53					0.000673444	0.000733943	1	1	0
GNPDA2	132789	broad.mit.edu	37	4	44724202	44724202	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr4:44724202T>A	ENST00000509756.1	-	2	129	c.23A>T	c.(22-24)aAc>aTc	p.N8I	GNPDA2_ENST00000295448.3_Missense_Mutation_p.N8I|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Missense_Mutation_p.N8I|GNPDA2_ENST00000507534.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	8					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CAAGTCATAGTTATCAAGAAT	0.393000													9	30					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541294	133541294	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:133541294G>A	ENST00000409261.1	-	14	3463	c.3090C>T	c.(3088-3090)acC>acT	p.T1030T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1030T|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1030							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGCCATTACGGTGAAGGAGC	0.557000													6	20					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231320	6231320	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:6231320C>A	ENST00000316375.2	+	2	363	c.313C>A	c.(313-315)Cga>Aga	p.R105R		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	105								p.R105R(1)|p.R105*(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAATGGCCGAGCAGAGAG	0.577000													10	19					2.17888e-05	2.53652e-05	1	1	0
PGM5	5239	broad.mit.edu	37	9	71098905	71098905	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:71098905G>T	ENST00000396396.1	+	9	1649	c.1420G>T	c.(1420-1422)Gcg>Tcg	p.A474S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	474					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTACAGCGTGGCGAAGACGGA	0.498000													9	55					9.70103e-10	1.29254e-09	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215793831	215793831	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:215793831G>T	ENST00000259154.4	+	18	2613	c.2319G>T	c.(2317-2319)ctG>ctT	p.L773L	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	773						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCCTATCTGGCGTCATCAC	0.433000													8	71					1.08611e-07	1.3569e-07	1	1	0
NAT10	55226	broad.mit.edu	37	11	34167729	34167729	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:34167729G>T	ENST00000257829.3	+	29	3274	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	NAT10_ENST00000531159.2_Missense_Mutation_p.R951L|NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000527971.1_Missense_Mutation_p.R286L	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	1023	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AAACTGAAGCGGAAGAAATAG	0.413000													5	105					0.0215528	0.0219819	1	1	0
RARB	5915	broad.mit.edu	37	3	25637931	25637931	+	Silent	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:25637931T>C	ENST00000330688.4	+	8	1592	c.1171T>C	c.(1171-1173)Ttg>Ctg	p.L391L	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.L279L|RARB_ENST00000404969.1_Silent_p.L398L|RARB_ENST00000437042.2_Silent_p.L279L	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	398	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGTAATTACCTTGAAAATGGA	0.393000													18	39					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119005105	119005105	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:119005105C>G	ENST00000350777.2	+	10	1514	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	484	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATGTGCTGTCTGAAGCCCCA	0.567000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21					0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74382394	74382394	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:74382394G>A	ENST00000545180.1	+	6	1065	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SPHK1_ENST00000392496.3_Missense_Mutation_p.E86K|SPHK1_ENST00000592299.1_Missense_Mutation_p.E86K|SPHK1_ENST00000590959.1_Missense_Mutation_p.E100K|SPHK1_ENST00000323374.4_Missense_Mutation_p.E172K			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	86	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GCTGATGCACGAGGTGAGGAC	0.697000											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105906076	105906076	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:105906076C>A	ENST00000357060.3	-	30	3915	c.3800G>T	c.(3799-3801)aGa>aTa	p.R1267I	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1267								p.R1267T(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGTCTTCTCTAGATTTCCG	0.413000													13	31					1.61879e-10	2.18845e-10	1	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55286723	55286723	+	Silent	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:55286723T>C	ENST00000336077.6	+	4	517	c.477T>C	c.(475-477)caT>caC	p.H159H	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.H159H|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	159	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACATGTACCATCTATCCAGGG	0.597000													23	17					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093859	40093859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:40093859C>T	ENST00000299092.3	-	4	1217	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	GPR176_ENST00000543580.1_Missense_Mutation_p.R296Q|GPR176_ENST00000561100.1_Missense_Mutation_p.R341Q	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	341					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GCGACTGTACCGGTGGTGTAG	0.562000													8	25					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133238206	133238206	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:133238206C>A	ENST00000320574.5	-	24	2814	c.2771G>T	c.(2770-2772)cGc>cTc	p.R924L	POLE_ENST00000535270.1_Missense_Mutation_p.R897L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	924					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTCTCTGAGCGGGTGACGTA	0.527000								DNA polymerases (catalytic subunits)					4	284					1	1	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24886579	24886579	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:24886579T>G	ENST00000382554.3	+	9	5942	c.5624T>G	c.(5623-5625)aTc>aGc	p.I1875S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1875					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGGGTGCATCTATCCCAGC	0.607000													3	8					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736293	8736293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:8736293C>T	ENST00000311434.9	-	9	954	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	239					platelet activation	cytosol											GGGCTGGCCTCGCTGGCCATC	0.697000													6	6					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216987	21216987	+	Missense_Mutation	SNP	G	G	T	rs149344621		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:21216987G>T	ENST00000380216.1	-	1	323	c.318C>A	c.(316-318)gaC>gaA	p.D106E		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	106					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTAGAATTTGTCTAGGAGGG	0.483000													35	179					7.11191e-15	1.0182e-14	1	1	0
CACTIN	58509	broad.mit.edu	37	19	3619230	3619230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:3619230G>A	ENST00000429344.2	-	5	947	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	CACTIN_ENST00000248420.5_Missense_Mutation_p.R299C|CACTIN_ENST00000221899.3_Missense_Mutation_p.R231C	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCCCGGATGCGGATCTTGGAA	0.627000													3	17					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034069	74034069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:74034069C>T	ENST00000307365.3	+	2	296	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	32					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCGCCGCGCTCAGCCTGGGGG	0.682000													10	34					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90750654	90750654	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:90750654C>T	ENST00000355740.2	+	1	241	c.21C>T	c.(19-21)ctC>ctT	p.L7L	FAS_ENST00000352159.4_Silent_p.L7L|ACTA2_ENST00000458208.1_Intron|FAS_ENST00000357339.2_Silent_p.L7L|FAS_ENST00000355279.2_Silent_p.L7L	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	7					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TCTGGACCCTCCTACCTCTGG	0.642000													7	19					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57689410	57689410	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:57689410C>T	ENST00000562631.1	+	6	1400	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	GPR56_ENST00000456916.1_Silent_p.L290L|GPR56_ENST00000388813.5_Silent_p.L290L|GPR56_ENST00000568909.1_Silent_p.L290L|GPR56_ENST00000388812.4_Silent_p.L290L|GPR56_ENST00000568908.1_Silent_p.L290L|GPR56_ENST00000379694.4_Silent_p.L120L|GPR56_ENST00000538815.1_Silent_p.L290L|GPR56_ENST00000379696.3_Silent_p.L290L|GPR56_ENST00000567835.1_Silent_p.L290L|GPR56_ENST00000562558.1_Silent_p.L290L|GPR56_ENST00000540164.2_Silent_p.L290L|GPR56_ENST00000544297.1_Silent_p.L115L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	290					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GAGACTCCTCCTGGTGGACTT	0.577000													8	24					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51761793	51761793	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:51761793G>T	ENST00000374056.4	+	4	763	c.365G>T	c.(364-366)tGt>tTt	p.C122F	AGAP6_ENST00000412531.3_Missense_Mutation_p.C145F			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	145					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TACAGCTTGTGTTCGACAATA	0.393000													25	778					1.45844e-13	2.04981e-13	1	1	0
DGKG	1608	broad.mit.edu	37	3	185978271	185978271	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:185978271G>T	ENST00000265022.3	-	16	1920	c.1381C>A	c.(1381-1383)Ccc>Acc	p.P461T	DGKG_ENST00000544847.1_Missense_Mutation_p.P402T|DGKG_ENST00000382164.4_Missense_Mutation_p.P422T|DGKG_ENST00000344484.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	461	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACTTGTTTGGGGTTGAGCAGA	0.433000													6	15					3.59834e-05	4.09588e-05	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117865032	117865032	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:117865032T>C	ENST00000357099.4	+	1	321	c.148T>C	c.(148-150)Tat>Cat	p.Y50H	ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000265224.4_Missense_Mutation_p.Y50H|ANKRD7_ENST00000433239.1_5'UTR|ANKRD7_ENST00000417525.1_5'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	50					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GATCAAGAAATATGATGTAAA	0.463000													6	36					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47576922	47576922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:47576922C>G	ENST00000359314.5	+	16	2152	c.1696C>G	c.(1696-1698)Cca>Gca	p.P566A	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	566					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCTGACTCCATTAGAAAT	0.343000													11	23					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52582216	52582216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:52582216C>A	ENST00000356770.4	-	28	4674	c.4672G>T	c.(4672-4674)Gag>Tag	p.E1558*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1553*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1538*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E1645*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1608*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1590*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1565*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1538*			Q86U86	PB1_HUMAN	polybromo 1	1645	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCGGCTCTCCTGTTCTTTC	0.498000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								22	45					4.26978e-12	5.89331e-12	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189931492	189931492	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:189931492G>C	ENST00000374866.3	-	22	1692	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	473				Missing (in Ref. 1; CAA75002 and 9; CAA28454).	axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTGAAACCTGGAACTCCTGG	0.363000													8	88					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468278	10468278	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:10468278C>A	ENST00000382483.3	-	4	3553	c.3330G>T	c.(3328-3330)agG>agT	p.R1110S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1110					intracellular signal transduction					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)		AGCAGCTGAGCCTCCTGGCCA	0.617000													13	53					1.3612e-06	1.6645e-06	1	1	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782213	27782213	+	Silent	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:27782213G>C	ENST00000333151.3	-	1	394	c.306C>G	c.(304-306)acC>acG	p.T102T		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	102					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						CCTGTGCGATGGTGACTTTGC	0.577000													24	82					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528397	77528397	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:77528397G>A	ENST00000373304.3	-	3	1139	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	283					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GATGCAGCCAGAGACAAGGTT	0.403000													14	35					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936213	209936213	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:209936213C>T	ENST00000367024.1	+	5	1065	c.549C>T	c.(547-549)acC>acT	p.T183T	TRAF3IP3_ENST00000010338.4_Silent_p.T163T|TRAF3IP3_ENST00000367025.3_Silent_p.T183T|TRAF3IP3_ENST00000367026.3_Silent_p.T163T|TRAF3IP3_ENST00000400959.3_Silent_p.T163T			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	183						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTCAGCAAACCAAGTGAGTTC	0.448000													15	45					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13882984	13882984	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:13882984C>T	ENST00000319545.8	+	6	915	c.858C>T	c.(856-858)atC>atT	p.I286I	CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Silent_p.I333I	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	333					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ACGACCTCATCACTGGTGGCA	0.567000													12	40					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252578	7252578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:7252578C>T	ENST00000266542.4	-	4	627	c.535G>A	c.(535-537)Gag>Aag	p.E179K	C1RL_ENST00000544702.1_Missense_Mutation_p.E179K|C1RL_ENST00000545280.1_Missense_Mutation_p.E63K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	179					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGATGGCCTCAGAGCCCCTG	0.592000													5	12					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062939	55062939	+	RNA	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:55062939G>A	ENST00000526016.1	-	0	698					NR_038174.2																						GTTCGTACTAGAGTAGCTCCA	0.433000													13	23					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241667511	241667511	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:241667511T>A	ENST00000366560.3	-	7	977	c.939A>T	c.(937-939)gaA>gaT	p.E313D		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	313					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCAGAGCTTCAAATTTAT	0.403000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				16	11					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	48					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192426	152192426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:152192426G>T	ENST00000368801.2	-	3	1754	c.1679C>A	c.(1678-1680)cCa>cAa	p.P560Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	560					keratinization		calcium ion binding|protein binding			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)			ATACCCATGTGGGCCATAGCT	0.587000													33	164					6.02846e-25	8.85069e-25	1	1	0
WDR91	29062	broad.mit.edu	37	7	134891917	134891917	+	Silent	SNP	C	C	T	rs146886305		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:134891917C>T	ENST00000354475.4	-	4	580	c.549G>A	c.(547-549)caG>caA	p.Q183Q	WDR91_ENST00000423565.1_Silent_p.Q148Q|WDR91_ENST00000344400.5_Silent_p.Q183Q	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	183										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGTTAGTCCTCTGACACTCCG	0.453000													11	41					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264883	1264883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:1264883G>A	ENST00000447027.1	+	31	6840	c.6782G>A	c.(6781-6783)aGc>aAc	p.S2261N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S2258N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2258	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCACCCTAGCAGCAGAACC	0.652000													31	76					0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796147	87796147	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:87796147G>C	ENST00000369582.2	-	3	194	c.94C>G	c.(94-96)Cca>Gca	p.P32A		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	32					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		GTGCATTCTGGGCAATCTATC	0.473000													12	26					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168067298	168067298	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:168067298C>A	ENST00000409195.1	+	4	705	c.616C>A	c.(616-618)Cgg>Agg	p.R206R	XIRP2_ENST00000409043.1_Silent_p.R206R|XIRP2_ENST00000295237.9_Silent_p.R206R|XIRP2_ENST00000409756.2_Silent_p.R206R|XIRP2_ENST00000409728.1_Silent_p.R239R|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Silent_p.R239R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	31					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGCTGCTCGGGGCGAGGG	0.552000													11	85					3.86212e-05	4.38531e-05	1	1	0
SLC29A2	3177	broad.mit.edu	37	11	66130934	66130934	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:66130934G>A	ENST00000357440.2	-	12	1572	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000546034.1_Silent_p.L448L|SLC29A2_ENST00000544554.1_Silent_p.L448L|RP11-867G23.8_ENST00000580881.1_Intron|RP11-867G23.8_ENST00000531602.1_Silent_p.E61E	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	448					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						AGAGGAAGGAGAGGGAGGCTC	0.637000													3	13					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715300	126715300	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:126715300G>T	ENST00000309035.6	-	1	1159	c.1029C>A	c.(1027-1029)agC>agA	p.S343R	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGGCCAGGCGGCTCAGAACAC	0.687000													4	3					0.184627	0.185837	1	1	0
LOC100131496	100131496	broad.mit.edu	37	20	45947822	45947822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:45947822G>A	ENST00000599904.1	+	1	577	c.458G>A	c.(457-459)aGa>aAa	p.R153K	ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Intron																							GGAGGAGGAAGAAGCAAAGAG	0.587000													4	11					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185978285	185978285	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:185978285T>C	ENST00000265022.3	-	16	1906	c.1367A>G	c.(1366-1368)cAc>cGc	p.H456R	DGKG_ENST00000544847.1_Missense_Mutation_p.H397R|DGKG_ENST00000382164.4_Missense_Mutation_p.H417R|DGKG_ENST00000344484.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	456	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGCAGATAGTGGAATTTCCG	0.443000													4	14					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12986962	12986962	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:12986962C>A	ENST00000222219.3	-	6	1017	c.925G>T	c.(925-927)Gtg>Ttg	p.V309L	DNASE2_ENST00000538460.1_Missense_Mutation_p.V254L	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	309					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						ATGTCACCCACGCAGGTCCAG	0.612000													9	47					2.17888e-05	2.53652e-05	1	1	0
MACF1	23499	broad.mit.edu	37	1	39827252	39827252	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:39827252C>G	ENST00000564288.1	+	49	13451	c.12674C>G	c.(12673-12675)tCt>tGt	p.S4225C	MACF1_ENST00000545844.1_Missense_Mutation_p.S2163C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2163C|MACF1_ENST00000372915.3_Missense_Mutation_p.S4230C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2163C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2163C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2665C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S4262C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4230					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACACCTCTCTGGTAAGCTG	0.488000													45	55					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101751489	101751489	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:101751489G>T	ENST00000375001.3	+	5	1176	c.753G>T	c.(751-753)gaG>gaT	p.E251D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	251	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCTGCAGGAGGCAGACGGAG	0.567000													6	32					3.59834e-05	4.09588e-05	1	1	0
POGLUT1	56983	broad.mit.edu	37	3	119196159	119196159	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:119196159G>T	ENST00000295588.4	+	4	404		c.e4-1			NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1							endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTGGTTGACAGGTGTAGTGGT	0.463000													32	79					6.29468e-14	8.87416e-14	1	1	0
AP2B1	163	broad.mit.edu	37	17	33953740	33953740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:33953740G>A	ENST00000262325.7	+	7	1370	c.817G>A	c.(817-819)Gat>Aat	p.D273N	AP2B1_ENST00000592545.1_Missense_Mutation_p.D235N|AP2B1_ENST00000537622.2_Missense_Mutation_p.D273N|AP2B1_ENST00000538556.1_Missense_Mutation_p.D216N|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.D273N|AP2B1_ENST00000589344.1_Missense_Mutation_p.D273N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	273					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTACCTAAGGATTCTGACTA	0.488000													23	140					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127998900	127998900	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:127998900C>G	ENST00000324460.6	-	8	2139	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	646					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GCTGTATCCTCTTCACCAGTT	0.393000										Prostate(1;0.17)			14	51					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119670868	119670868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:119670868G>A	ENST00000371322.5	-	15	2021	c.1960C>T	c.(1960-1962)Ccg>Tcg	p.P654S	CUL4B_ENST00000404115.3_Missense_Mutation_p.P672S|CUL4B_ENST00000336592.6_Missense_Mutation_p.P659S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	672					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATTTCCCGGAACATTCTGA	0.358000													26	44					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991119	47991119	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:47991119C>T	ENST00000371741.4	-	2	1144	c.978G>A	c.(976-978)agG>agA	p.R326R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	326					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTGTAGCTCCTCCGCAAAG	0.542000													11	40					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469664	21469664	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:21469664G>C	ENST00000298681.4	+	4	1013	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	286						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGCTAGTCCTGAGGCCCCTCT	0.552000													20	67					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927207	36927207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:36927207C>T	ENST00000310758.4	-	18	2319	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ELMO1_ENST00000396045.3_Missense_Mutation_p.E78K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E558K|ELMO1_ENST00000341056.3_Missense_Mutation_p.E260K|ELMO1_ENST00000442504.1_Missense_Mutation_p.E558K|ELMO1_ENST00000396040.2_Missense_Mutation_p.E78K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	558	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAGGTCCCTTCCACAAGGCGG	0.502000													13	41					0	0	1	0	0
CEBPG	1054	broad.mit.edu	37	19	33870499	33870499	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:33870499C>G	ENST00000284000.4	+	2	1016	c.354C>G	c.(352-354)ctC>ctG	p.L118L	CEBPG_ENST00000585933.2_Silent_p.L118L	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma		Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					TAAGTGTACTCAAAGATTTGT	0.423000													10	17					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313190	54313190	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:54313190G>A	ENST00000324134.6	-	3	1891	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L	NLRP12_ENST00000345770.5_Silent_p.L575L|NLRP12_ENST00000351894.4_Silent_p.L575L|NLRP12_ENST00000354278.3_Silent_p.L575L|NLRP12_ENST00000391772.1_Silent_p.L575L|NLRP12_ENST00000391773.1_Silent_p.L575L|NLRP12_ENST00000391775.3_Silent_p.L575L|NLRP12_ENST00000535162.1_Silent_p.L575L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	575					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCTTCTCCAGGTGGCTCCTG	0.577000													21	35					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26400708	26400708	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:26400708C>A	ENST00000335473.7	+	42	6607	c.6357C>A	c.(6355-6357)tcC>tcA	p.S2119S	MYO18B_ENST00000536101.1_Silent_p.S2119S|MYO18B_ENST00000407587.2_Silent_p.S2120S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2119						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCTCAGCTCCCAGCCAGAGG	0.512000													8	30					0.000157383	0.000174828	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135254033	135254033	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:135254033C>A	ENST00000265605.2	-	5	798	c.730G>T	c.(730-732)Gct>Tct	p.A244S	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A244S|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A194S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	244					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CAGTGGGGAGCGCTCAGCTGG	0.647000													16	9					5.35267e-07	6.61549e-07	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49898242	49898242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:49898242C>T	ENST00000477224.1	-	8	1160	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CAMKV_ENST00000467248.1_Missense_Mutation_p.D153N|CAMKV_ENST00000296471.7_Missense_Mutation_p.D200N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D228N|CAMKV_ENST00000466940.1_Missense_Mutation_p.D185N|CAMKV_ENST00000463537.1_Missense_Mutation_p.D228N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	228	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTCATAATCATCTTCTTCC	0.498000													33	63					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16893373	16893373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:16893373G>A	ENST00000377833.4	-	60	9589	c.9524C>T	c.(9523-9525)tCg>tTg	p.S3175L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3175	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATTCCATTCGAATCAGAATC	0.403000													15	52					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873428	37873428	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:37873428C>T	ENST00000295324.3	-	2	1303	c.303G>A	c.(301-303)ccG>ccA	p.P101P	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	101					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	p.P101P(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TTTTGAGCACCGGGGAGGGCG	0.532000													24	49					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85787982	85787982	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:85787982C>A	ENST00000233838.4	-	2	250	c.170G>T	c.(169-171)cGa>cTa	p.R57L	GGCX_ENST00000430215.3_Intron	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GTCCGTTGGTCGATTCAGCAG	0.512000													26	104					1.1804e-14	1.68471e-14	1	1	0
SLC29A2	3177	broad.mit.edu	37	11	66130950	66130950	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:66130950G>A	ENST00000357440.2	-	12	1556	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S443F|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S443F|RP11-867G23.8_ENST00000580881.1_Intron|RP11-867G23.8_ENST00000531602.1_Missense_Mutation_p.E67K	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	443					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	p.S443Y(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGCTCCACAGGAAAGTCCCAG	0.617000													5	13					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7232090	7232090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:7232090G>T	ENST00000379938.2	+	10	4295	c.3758G>T	c.(3757-3759)cGg>cTg	p.R1253L	RREB1_ENST00000349384.6_Missense_Mutation_p.R1253L|RREB1_ENST00000379933.3_Missense_Mutation_p.R1253L|RREB1_ENST00000334984.6_Missense_Mutation_p.R1253L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1253					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			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)				CACTGTCCCCGGGTTTTCCCT	0.607000													9	10					2.17888e-05	2.53652e-05	1	1	0
DSC3	1825	broad.mit.edu	37	18	28586904	28586904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr18:28586904G>C	ENST00000434452.1	-	12	2011	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	DSC3_ENST00000360428.4_Missense_Mutation_p.I619M	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	619	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACAGTCTACTGATTTCTGGAG	0.358000													11	29					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35549233	35549233	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:35549233C>A	ENST00000353139.5	-	37	4695	c.4214G>T	c.(4213-4215)cGt>cTt	p.R1405L	ACACA_ENST00000394406.2_Missense_Mutation_p.R1368L|ACACA_ENST00000360679.3_Missense_Mutation_p.R1310L|ACACA_ENST00000335166.5_Missense_Mutation_p.R1290L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1368					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGATAGATACGATCCTCCTC	0.408000													8	13					0.000157383	0.000174828	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3682111	3682111	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:3682111G>C	ENST00000344754.4	-	6	1405	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S469C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	469	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGGGACCAGAGGTACCACT	0.602000													10	37					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459080	148459080	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:148459080C>T	ENST00000542281.1	+	4	704	c.258C>T	c.(256-258)gtC>gtT	p.V86V	AGTR1_ENST00000404754.2_Silent_p.V86V|AGTR1_ENST00000418473.2_Silent_p.V86V|AGTR1_ENST00000402260.1_Silent_p.V86V|AGTR1_ENST00000497524.1_Silent_p.V86V|AGTR1_ENST00000474935.1_Silent_p.V86V|AGTR1_ENST00000475347.1_Silent_p.V86V|AGTR1_ENST00000349243.3_Silent_p.V86V|AGTR1_ENST00000461609.1_Silent_p.V86V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	86					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TATGGGCTGTCTACACAGCTA	0.423000													9	48					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35928771	35928771	+	Silent	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:35928771C>T	ENST00000374694.1	-	1	1591	c.1587G>A	c.(1585-1587)ctG>ctA	p.L529L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	529					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCGGATCATCAGCTTCTCCA	0.657000													9	14					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30915869	30915869	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:30915869C>A	ENST00000597505.1	-	33	4818	c.4819G>T	c.(4819-4821)Gtg>Ttg	p.V1607L	DCDC1_ENST00000406071.2_Missense_Mutation_p.V345L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAACCACCACGGGCTGCACA	0.483000													11	30					6.40141e-05	7.23297e-05	1	1	0
TRAV9-2	28677	broad.mit.edu	37	14	22409404	22409404	+	RNA	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:22409404C>G	ENST00000390441.2	+	0	92																											CTCTGATACTCTTACTGCTTG	0.353000													9	26					0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40730479	40730479	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:40730479G>A	ENST00000430325.2	-	3	477	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CNTD2_ENST00000433940.1_Silent_p.G113G|CNTD2_ENST00000513948.1_Silent_p.G37G	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	143					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GACGCACGCGGCCAGCGCTCA	0.617000													4	122					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	C	A	rs146330073		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr14:20841685C>A	ENST00000262715.5	-	46	6702	c.6662G>T	c.(6661-6663)cGg>cTg	p.R2221L	TEP1_ENST00000556935.1_Missense_Mutation_p.R2113L|TEP1_ENST00000545983.1_Missense_Mutation_p.R559L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557000													19	14					3.73194e-20	5.4272e-20	1	1	0
TNXB	7148	broad.mit.edu	37	6	32012965	32012965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:32012965G>C	ENST00000375244.3	-	32	10946	c.10745C>G	c.(10744-10746)cCc>cGc	p.P3582R	TNXB_ENST00000451343.1_Missense_Mutation_p.P11R|TNXB_ENST00000375247.2_Missense_Mutation_p.P3580R			P22105	TENX_HUMAN	tenascin XB	3627					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAATCAAAGGGGCCCTGGGC	0.647000													4	21					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66131860	66131860	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:66131860G>A	ENST00000357440.2	-	11	1323	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	SLC29A2_ENST00000311161.7_Silent_p.L321L|SLC29A2_ENST00000546034.1_Silent_p.V365V|SLC29A2_ENST00000544554.1_Silent_p.V365V|RP11-867G23.8_ENST00000580881.1_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	365					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						ACCGCAGGCAGACCAGCAGGG	0.627000													9	12					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654595	61654595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:61654595C>T	ENST00000423902.2	+	2	1083	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q202*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q202*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	202	Gln-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCCATGCAGCAGCATGGTCA	0.602000													11	24					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871953	51871953	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:51871953G>T	ENST00000371497.5	+	2	2843	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	TSHZ2_ENST00000329613.6_Missense_Mutation_p.K649N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.K649N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	652					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTCCCCTGAAGGAGGAGGAGA	0.582000													4	30					0.00909568	0.00944394	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138000052	138000052	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:138000052A>T	ENST00000409968.1	+	10	2354	c.2176A>T	c.(2176-2178)Act>Tct	p.T726S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T726S|THSD7B_ENST00000413152.2_Missense_Mutation_p.T695S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCGACCTGAAACTGTGCGCCC	0.463000													7	27					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15287351	15287351	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:15287351G>C	ENST00000376030.2	+	2	692	c.398G>C	c.(397-399)aGa>aCa	p.R133T	KAZN_ENST00000503743.1_Missense_Mutation_p.R133T|KAZN_ENST00000400797.3_Missense_Mutation_p.R39T|KAZN_ENST00000422387.2_Missense_Mutation_p.R133T|KAZN_ENST00000361144.5_Missense_Mutation_p.R127T|KAZN_ENST00000400798.2_Missense_Mutation_p.R39T	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	133					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GAGCTAGCCAGAGCCAAAGAA	0.642000													3	13					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76452246	76452246	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:76452246A>G	ENST00000396423.2	+	1	143	c.19A>G	c.(19-21)Agt>Ggt	p.S7G	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GGCAAATTACAGTGAAGTTTT	0.383000													15	89					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40626181	40626181	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr12:40626181C>T	ENST00000298910.7	+	3	401	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	LRRK2_ENST00000343742.2_Missense_Mutation_p.H115Y	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	115					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTGGTGTTCACCAGTAAGT	0.398000													7	13					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54990864	54990864	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:54990864C>G	ENST00000316881.4	-	1	535	c.486G>C	c.(484-486)cgG>cgC	p.R162R	TRIM25_ENST00000537230.1_Silent_p.R162R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	162					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					ATTCCCGCAGCCGATTGTGCT	0.652000													5	29					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461331	33461331	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:33461331T>G	ENST00000265112.3	+	13	1793	c.1482T>G	c.(1480-1482)ttT>ttG	p.F494L	TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.F373L|TARS_ENST00000455217.2_Missense_Mutation_p.F527L|TARS_ENST00000541634.1_Missense_Mutation_p.F390L|TARS_ENST00000502553.1_Missense_Mutation_p.F494L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	494					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GATTTTCTTTTAAACTAAACC	0.328000													34	51					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			23	14					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012966	32012966	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:32012966G>T	ENST00000375244.3	-	32	10945	c.10744C>A	c.(10744-10746)Ccc>Acc	p.P3582T	TNXB_ENST00000451343.1_Missense_Mutation_p.P11T|TNXB_ENST00000375247.2_Missense_Mutation_p.P3580T			P22105	TENX_HUMAN	tenascin XB	3627					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAATCAAAGGGGCCCTGGGCC	0.642000													4	21					8.12818e-05	9.1616e-05	1	1	0
ODF2	4957	broad.mit.edu	37	9	131219716	131219716	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:131219716G>A	ENST00000434106.3	+	2	395	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ODF2_ENST00000448249.3_Intron|ODF2_ENST00000372791.3_Splice_Site_p.R11K|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Splice_Site_p.R11K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTCCCCCAGGTATTGCCGA	0.657000													16	54					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51971684	51971684	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:51971684C>T	ENST00000232888.6	-	4	422		c.e4+1			NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)						rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCCACACTTACCACATCCTCC	0.607000													21	59					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316805	45316805	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:45316805G>C	ENST00000589651.1	+	6	766	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P	BCAM_ENST00000270233.6_Missense_Mutation_p.A238P			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTTCCACTGCGCCGCCCACTA	0.697000													16	31					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50223322	50223322	+	Splice_Site	SNP	C	C	T	rs67485772		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:50223322C>T	ENST00000002829.3	+	16	2072	c.1588C>T	c.(1588-1590)Caa>Taa	p.Q530*	SEMA3F_ENST00000413852.1_Splice_Site_p.Q431*|SEMA3F_ENST00000434342.1_Splice_Site_p.Q499*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	530	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTGCCCCAGCAACAACTCTA	0.632000													21	41					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100864	27100864	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:27100864G>T	ENST00000359193.2	+	1	33	c.14G>T	c.(13-15)gGc>gTc	p.G5V		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	5					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			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						TCTGGACGTGGCAAGCAGGGA	0.587000													12	51					0.00010058	0.000113091	1	1	0
NUPL1	9818	broad.mit.edu	37	13	25876009	25876009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:25876009G>A	ENST00000463407.1	+	1	241	c.98G>A	c.(97-99)gGa>gAa	p.G33E	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G33E|NUPL1_ENST00000381736.3_Missense_Mutation_p.G33E			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	33	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTCGGAACGGGAGCGTCTAGG	0.657000													3	12					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60612351	60612351	+	Silent	SNP	G	G	A	rs141928935	by1000genomes	TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr18:60612351G>A	ENST00000400316.4	+	12	3416	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	PHLPP1_ENST00000262719.5_Silent_p.A1057A	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1057	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GTAAAATGGCGAAACTGGAGG	0.358000													5	3					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6521008	6521008	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:6521008G>T	ENST00000263125.5	-	12	1398	c.1299C>A	c.(1297-1299)tcC>tcA	p.S433S	PRKCQ_ENST00000397176.2_Silent_p.S433S|PRKCQ_ENST00000539722.1_Silent_p.S308S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	433	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCCAGGCCAAGGAAAGAACTC	0.463000													8	63					0.00307968	0.00326375	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1257645	1257645	+	Silent	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:1257645C>A	ENST00000447027.1	+	24	2977	c.2919C>A	c.(2917-2919)acC>acA	p.T973T	MUC5B_ENST00000529681.1_Silent_p.T970T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	970	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGAGGGGACCTTTAAGGCGG	0.657000													5	18					0.00116845	0.00125854	1	1	0
FOPNL	123811	broad.mit.edu	37	16	15967392	15967392	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:15967392G>A	ENST00000255759.6	-	4	433	c.404C>T	c.(403-405)tCa>tTa	p.S135L	FOPNL_ENST00000575073.1_Intron|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573429.1_Missense_Mutation_p.S159L|FOPNL_ENST00000575744.1_Missense_Mutation_p.S69L	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	135					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						ACTTGGGTCTGAAGGCTGAAG	0.413000													18	28					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71075735	71075735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:71075735G>A	ENST00000452400.2	-	8	978	c.797C>T	c.(796-798)tCa>tTa	p.S266L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	266					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTTTCTGATGAGGGAAGAAC	0.388000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								8	41					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70499039	70499039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr16:70499039C>T	ENST00000288078.6	+	4	477	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FUK_ENST00000378912.2_Missense_Mutation_p.S114F|FUK_ENST00000428974.2_Intron|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	82						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGTCACATCCGATGTCCTG	0.572000													8	32					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27097665	27097665	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:27097665C>G	ENST00000324856.7	+	12	3625	c.3254C>G	c.(3253-3255)tCa>tGa	p.S1085*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1085*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S702*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1085	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGGCACATCAAGCAGTGCT	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	18					0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64100093	64100093	+	Silent	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:64100093C>G	ENST00000539294.1	+	4	1837	c.1521C>G	c.(1519-1521)gtC>gtG	p.V507V	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Silent_p.V318V	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	508	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGATCTTTGTCAAAGATGTTC	0.408000													7	35					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54661256	54661256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:54661256C>T	ENST00000419823.2	-	2	258	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CYB5RL_ENST00000287899.8_Missense_Mutation_p.E12K|CYB5RL_ENST00000534324.1_Missense_Mutation_p.E12K|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000497820.1_Missense_Mutation_p.E12K|CYB5RL_ENST00000537208.1_Missense_Mutation_p.E12K|CYB5RL_ENST00000401046.3_5'UTR|CYB5RL_ENST00000542737.1_Missense_Mutation_p.E12K|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.E12K	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	12							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGGCTTCCTCAGTGTCGTCG	0.582000													55	45					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650921	121650921	+	Silent	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:121650921T>C	ENST00000393386.2	+	12	2232	c.1821T>C	c.(1819-1821)taT>taC	p.Y607Y	PTPRZ1_ENST00000449182.1_Silent_p.Y607Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	607					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCAAGGGTATATATTTTCCT	0.423000													25	23					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796907	109796907	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:109796907A>G	ENST00000297459.3	-	2	599	c.421T>C	c.(421-423)Tgg>Cgg	p.W141R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	141					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGATTTTCCCAGCCAAGCTCC	0.473000													13	93					0	0	1	0	0
TTC32	130502	broad.mit.edu	37	2	20101520	20101520	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:20101520G>T	ENST00000333610.3	-	1	227	c.96C>A	c.(94-96)tcC>tcA	p.S32S	TTC32_ENST00000402414.1_Silent_p.S32S	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	32							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATGTAAGCGGAGTACAGTG	0.642000													8	32					5.18039e-06	6.21917e-06	1	1	0
PIGO	84720	broad.mit.edu	37	9	35091443	35091443	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:35091443C>T	ENST00000378617.3	-	7	2835	c.2441G>A	c.(2440-2442)aGg>aAg	p.R814K	PIGO_ENST00000341666.3_Missense_Mutation_p.R814K|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	814					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGATTTGGTCCTCTCTAACCG	0.562000													6	19					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286262	223286262	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:223286262G>C	ENST00000540964.1	-	4	573	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	TLR5_ENST00000342210.6_Missense_Mutation_p.L38V			O60602	TLR5_HUMAN	toll-like receptor 5	38					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ACCTGGGTGAGGTTGCAGAAA	0.532000													17	16					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63928186	63928186	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr15:63928186C>A	ENST00000443617.2	-	65	12475	c.12388G>T	c.(12388-12390)Gcc>Tcc	p.A4130S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4130					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTTGTAAGGCCTCGATCTGC	0.473000													35	201					1.57019e-19	2.27629e-19	1	1	0
NCALD	83988	broad.mit.edu	37	8	102731782	102731782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr8:102731782C>A	ENST00000395923.1	-	4	535	c.76G>T	c.(76-78)Gag>Tag	p.E26*	NCALD_ENST00000519508.2_Nonsense_Mutation_p.E26*|NCALD_ENST00000220931.6_Nonsense_Mutation_p.E26*|NCALD_ENST00000311028.3_Nonsense_Mutation_p.E26*|NCALD_ENST00000522951.1_Nonsense_Mutation_p.E26*|NCALD_ENST00000521599.1_Nonsense_Mutation_p.E26*	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	26	EF-hand 1.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCCTGGATCTCATGCTCTGTA	0.478000													28	118					4.87955e-14	6.90023e-14	1	1	0
LMAN2	10960	broad.mit.edu	37	5	176778288	176778288	+	Silent	SNP	G	G	T	rs138759573		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr5:176778288G>T	ENST00000303127.7	-	2	405	c.201C>A	c.(199-201)gtC>gtA	p.V67V	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.V67V	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	67	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGAACCGACCCCTGTGG	0.607000													12	25					2.27111e-07	2.82205e-07	1	1	0
DST	667	broad.mit.edu	37	6	56484621	56484621	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr6:56484621C>A	ENST00000370765.6	-	23	4318	c.4211G>T	c.(4210-4212)cGt>cTt	p.R1404L	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5065					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTAGCAAACGAGCCTTTTC	0.413000													14	52					1.15088e-07	1.43393e-07	1	1	0
WDR44	54521	broad.mit.edu	37	X	117570746	117570746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:117570746C>G	ENST00000254029.3	+	14	2328	c.1933C>G	c.(1933-1935)Caa>Gaa	p.Q645E	WDR44_ENST00000371822.5_Missense_Mutation_p.Q620E|WDR44_ENST00000371825.3_Missense_Mutation_p.Q645E	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	645						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTGCTGTTTTCAACATATAGA	0.343000													17	32					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114900993	114900993	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:114900993G>T	ENST00000545257.1	+	6	1110	c.603G>T	c.(601-603)acG>acT	p.T201T	TCF7L2_ENST00000534894.1_Silent_p.T201T|TCF7L2_ENST00000355717.4_Silent_p.T225T|TCF7L2_ENST00000349937.2_Silent_p.T201T|TCF7L2_ENST00000369395.1_Silent_p.T226T|TCF7L2_ENST00000543371.1_Silent_p.T201T|TCF7L2_ENST00000538897.1_Silent_p.T201T|TCF7L2_ENST00000369397.4_Silent_p.T178T|TCF7L2_ENST00000352065.5_Silent_p.T178T|TCF7L2_ENST00000355995.4_Silent_p.T201T|TCF7L2_ENST00000536810.1_Silent_p.T201T|TCF7L2_ENST00000542695.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	201	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCCCTCACGCCTCTTATCA	0.577000			T	VTI1A	colorectal								6	30					0.0215528	0.0219819	1	1	0
TARS2	80222	broad.mit.edu	37	1	150460379	150460379	+	Missense_Mutation	SNP	C	C	G	rs34340417		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:150460379C>G	ENST00000369064.3	+	2	146	c.112C>G	c.(112-114)Ctt>Gtt	p.L38V	TARS2_ENST00000606933.1_Missense_Mutation_p.L38V|TARS2_ENST00000369054.2_Missense_Mutation_p.L38V|TARS2_ENST00000438568.2_Missense_Mutation_p.L38V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	38					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCGGCTTGGCCTTTTTGAGGA	0.498000													13	52					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870992	207870992	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:207870992G>A	ENST00000508064.2	+	6	1067	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	336	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCCCAGGGAGACTGGAGC	0.517000													25	88					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49705358	49705358	+	Missense_Mutation	SNP	G	G	T	rs146408119		TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:49705358G>T	ENST00000492622.2	+	5	643	c.338G>T	c.(337-339)cGt>cTt	p.R113L	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R57L|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R113L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	113	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTCTCCACCGTTCTCCACAT	0.502000													17	20					2.35188e-11	3.22684e-11	1	1	0
OR51A4	401666	broad.mit.edu	37	11	4968080	4968080	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:4968080A>T	ENST00000380373.2	-	1	276	c.251T>A	c.(250-252)tTa>tAa	p.L84*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGATGCTTAACACAGTGGG	0.448000													22	74					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997247	46997247	+	Silent	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:46997247G>A	ENST00000599531.1	-	1	2508	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	492										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTCCCGGGCGGCCAGGAGCG	0.622000													6	53					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16515491	16515491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr19:16515491G>C	ENST00000602009.1	-	8	1769	c.874C>G	c.(874-876)Caa>Gaa	p.Q292E	EPS15L1_ENST00000455140.2_Missense_Mutation_p.Q446E|EPS15L1_ENST00000535753.2_Missense_Mutation_p.Q446E|EPS15L1_ENST00000597937.1_Missense_Mutation_p.Q446E|EPS15L1_ENST00000594975.1_Missense_Mutation_p.Q446E|EPS15L1_ENST00000248070.6_Missense_Mutation_p.Q446E			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	446	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGGCGGTCTTGAGCATCCTGT	0.562000													14	46					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201843465	201843465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:201843465C>T	ENST00000361565.4	+	21	2867	c.2798C>T	c.(2797-2799)gCc>gTc	p.A933V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	933					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GAGGCTAATGCCGCTCGCCAG	0.512000													3	47					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065234	23065234	+	Silent	SNP	G	G	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr20:23065234G>C	ENST00000246006.4	-	1	1743	c.1596C>G	c.(1594-1596)ctC>ctG	p.L532L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCATCTTGAGTGGGGCAG	0.667000													29	38					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876037	196876037	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:196876037T>A	ENST00000367416.2	+	4	620	c.483T>A	c.(481-483)aaT>aaA	p.N161K	CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCAAGAGTAATGGCATGTGGT	0.373000													6	28					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608858	84608858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr9:84608858G>A	ENST00000344803.2	+	4	3520	c.3473G>A	c.(3472-3474)aGg>aAg	p.R1158K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCACAAACTAGGAACAACTTG	0.418000													5	24					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37452396	37452396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr22:37452396C>T	ENST00000403888.3	+	3	357	c.356C>T	c.(355-357)cCg>cTg	p.P119L	KCTD17_ENST00000402077.3_Missense_Mutation_p.P119L	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	119						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						AACATCGGCCCGCTGATCCGC	0.607000													7	11					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256779	171256779	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:171256779C>G	ENST00000334231.6	+	17	1900	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Q625E|MYO3B_ENST00000408978.4_Missense_Mutation_p.Q625E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	625	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTCAACATCAGACTGATAA	0.413000													11	80					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62430556	62430556	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr11:62430556T>C	ENST00000524958.1	-	4	358	c.338A>G	c.(337-339)gAt>gGt	p.D113G	RP11-831H9.11_ENST00000528405.1_Intron|C11orf48_ENST00000431002.2_3'UTR|C11orf48_ENST00000532208.1_3'UTR|C11orf48_ENST00000354588.3_3'UTR			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	268										endometrium(1)|lung(5)|urinary_tract(1)	7						CATTTCTACATCCTGGGGGGC	0.473000													6	35					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21148539	21148539	+	Silent	SNP	G	G	T			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:21148539G>T	ENST00000382778.4	+	3	1160	c.42G>T	c.(40-42)gtG>gtT	p.V14V	IFT88_ENST00000537103.1_Silent_p.V5V|IFT88_ENST00000351808.5_Silent_p.V5V|IFT88_ENST00000319980.6_Silent_p.V14V			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	14					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGCAAAATGTGCACCTGGCTC	0.333000													14	29					6.81908e-15	9.79313e-15	1	1	0
TCEB3	6924	broad.mit.edu	37	1	24082867	24082868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:24082867_24082868insA	ENST00000418390.2	+	9	2425_2426	c.2154_2155insA	c.(2155-2157)aaafs	p.K719fs	TCEB3_ENST00000609199.1_Frame_Shift_Ins_p.K693fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	719					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTGTCCCTGAGAAAATCAAGTA	0.500													2	4	---	---	---	---					
FAM20B	9917	broad.mit.edu	37	1	179012998	179012999	+	In_Frame_Ins	INS	-	-	GAG			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr1:179012998_179012999insGAG	ENST00000263733.4	+	2	352_353	c.16_17insGAG	c.(16-18)cga>cGAGga	p.6_7insG		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	6						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCTAAAGCAGCGAGTCGTGCTG	0.460													9	33	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168103736	168103736	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr2:168103736delT	ENST00000409195.1	+	9	5923	c.5834delT	c.(5833-5835)atafs	p.I1945fs	XIRP2_ENST00000295237.9_Frame_Shift_Del_p.I1945fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.I1723fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1770					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGTGTAATAAAAAAAGAT	0.388													8	31	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9074399	9074399	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:9074399delT	ENST00000383836.3	-	12	1901	c.1474delA	c.(1474-1476)agafs	p.R492fs	SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	492	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCCTAGGTCTCCTCATTTTC	0.473			T	RAF1	pilocytic astrocytoma								9	44	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183689544	183689549	+	In_Frame_Del	DEL	GAAGCC	GAAGCC	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:183689544_183689549delGAAGCC	ENST00000334444.6	-	11	1803_1808	c.1563_1568delGGCTTC	c.(1561-1569)agggcttcc>agc	p.RA521del	ABCC5_ENST00000265586.6_In_Frame_Del_p.RA521del	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	521						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTTGCCCCTGGAAGCCCTCTTGTCTT	0.558													9	43	---	---	---	---					
EPHB3	2049	broad.mit.edu	37	3	184297360	184297360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:184297360delG	ENST00000330394.2	+	10	2349	c.1897delG	c.(1897-1899)gtcfs	p.V633fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	633	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGTGTCCTGCGTCAAGATCGA	0.542													9	42	---	---	---	---					
FBXO45	200933	broad.mit.edu	37	3	196311180	196311181	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr3:196311180_196311181delGG	ENST00000311630.6	+	3	1149_1150	c.852_853delGG	c.(850-855)ttggacfs	p.D285fs	FBXO45_ENST00000440469.1_Frame_Shift_Del_p.D106fs	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	285					nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAAAACCTTTGGACGGATGACA	0.450													8	20	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11485946	11485946	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr7:11485946delT	ENST00000423059.4	-	13	3057	c.2806delA	c.(2806-2808)agtfs	p.S936fs	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTTTTACTTTTTCCTGTG	0.338										HNSCC(18;0.044)			38	88	---	---	---	---					
FBXO18	84893	broad.mit.edu	37	10	5951259	5951259	+	Splice_Site	DEL	T	T	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr10:5951259delT	ENST00000379999.5	+	6	1277		c.e6+2		FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000470089.1_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTGCCGGGGTAGGTCTGGAG	0.557													14	63	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79940289	79940289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chr13:79940289delC	ENST00000438737.2	-	8	1617	c.1177delG	c.(1177-1179)gatfs	p.D393fs	RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Frame_Shift_Del_p.D393fs|RBM26_ENST00000438724.1_Frame_Shift_Del_p.D393fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	393	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAGGAGCATCCATGCCAGAT	0.448													10	37	---	---	---	---					
GPR50	9248	broad.mit.edu	37	X	150345219	150345219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6R-01A-11D-A42E-08	TCGA-DK-AA6R-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5150cb0c-0963-4d9c-abc6-535e625a8cca	a795d5cc-1f40-497d-90aa-18d9ed8c6533	g.chrX:150345219delC	ENST00000218316.3	+	1	95	c.26delC	c.(25-27)accfs	p.T9fs	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	9					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGTTCCCACCCCCTATGGC	0.547													10	39	---	---	---	---